Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)

CA376066033

2062424 (ClinVar)

Gene: DCLRE1C
Condition: severe combined immunodeficiency due to DCLRE1C deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: e1296883-1b81-4fe8-bb23-9682bb0a44bd
Approved on: 2024-04-01
Published on: 2024-04-01

HGVS expressions

NM_001033855.3:c.34C>T
NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)
NC_000010.11:g.14953977G>A
CM000672.2:g.14953977G>A
NC_000010.10:g.14995976G>A
CM000672.1:g.14995976G>A
NC_000010.9:g.15035982G>A
NG_007276.1:g.5119C>T
ENST00000378241.6:c.34C>T
ENST00000456122.2:c.34C>T
ENST00000489161.2:c.34C>T
ENST00000492201.6:c.34C>T
ENST00000697047.1:c.34C>T
ENST00000697070.1:c.34C>T
ENST00000697071.1:c.34C>T
ENST00000697072.1:c.34C>T
ENST00000697073.1:c.34C>T
ENST00000697074.1:c.34C>T
ENST00000697075.1:c.34C>T
ENST00000697076.1:c.34C>T
ENST00000697077.1:c.34C>T
ENST00000697078.1:c.34C>T
ENST00000697080.1:c.34C>T
ENST00000697081.1:c.34C>T
ENST00000697082.1:c.34C>T
ENST00000697083.1:c.34C>T
ENST00000697084.1:c.34C>T
ENST00000697085.1:c.34C>T
ENST00000697087.1:c.34C>T
ENST00000697088.1:c.34C>T
ENST00000697089.1:c.34C>T
ENST00000697091.1:n.95C>T
ENST00000378278.7:c.34C>T
ENST00000357717.6:c.-171C>T
ENST00000378241.5:c.-539C>T
ENST00000378246.6:c.-256C>T
ENST00000378249.5:c.-204C>T
ENST00000378254.5:c.-458C>T
ENST00000378255.5:c.-780C>T
ENST00000378258.5:c.-412C>T
ENST00000378278.6:c.34C>T
ENST00000378289.8:c.34C>T
ENST00000396817.6:c.-734C>T
ENST00000418843.5:c.-495C>T
ENST00000456122.1:c.-663C>T
NM_001033855.2:c.34C>T
NM_001033857.2:c.-412C>T
NM_001033858.2:c.-734C>T
NM_001289076.1:c.-171C>T
NM_001289077.1:c.-458C>T
NM_001289078.1:c.-204C>T
NM_001289079.1:c.-780C>T
NM_022487.3:c.-256C>T
NR_110297.1:n.456C>T
NM_001350965.1:c.34C>T
NM_001350966.1:c.-204C>T
NM_001350967.1:c.-412C>T
NR_146960.1:n.456C>T
NR_146961.1:n.456C>T
NR_146962.1:n.456C>T
NM_001033857.3:c.-412C>T
NM_001033858.3:c.-734C>T
NM_001289076.2:c.-171C>T
NM_001289077.2:c.-458C>T
NM_001289078.2:c.-204C>T
NM_001289079.2:c.-780C>T
NM_001350965.2:c.34C>T
NM_001350966.2:c.-204C>T
NM_001350967.2:c.-412C>T
NM_022487.4:c.-256C>T
NR_110297.2:n.120C>T
NR_146961.2:n.120C>T

Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 2
BS2 PS3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Severe Combined Immunodeficiency Disease VCEP
The c.34C>T (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause substitution of Proline by Serine at amino acid 12 (p.Pro12Ser). This variant is absent from gnomAD v4 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions or in functional studies. In summary, this variant is classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency, based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP (specification version 1.0): PM2_Supporting.
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v4 (PM2_Supporting).
Not Met criteria codes
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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