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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  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_001379110.1(SLC9A6):c.*12C>T

CA205543

212217 (ClinVar)

Gene: SLC9A6
Condition: Christianson syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 6f29c5d3-9892-43a1-92cf-f56ea29edfc7
Approved on: 2024-04-18
Published on: 2024-07-01

HGVS expressions

NM_001379110.1:c.*12C>T
NM_001379110.1(SLC9A6):c.*12C>T
NC_000023.11:g.136044736C>T
CM000685.2:g.136044736C>T
NC_000023.10:g.135126895C>T
CM000685.1:g.135126895C>T
NC_000023.9:g.134954561C>T
NG_017160.1:g.64310C>T
ENST00000370695.8:c.*12C>T
ENST00000370701.6:c.*12C>T
ENST00000630721.3:c.*12C>T
ENST00000636092.1:c.*12C>T
ENST00000636206.2:n.1292C>T
ENST00000636347.1:c.*12C>T
ENST00000636625.1:n.953C>T
ENST00000636798.1:n.1397C>T
ENST00000637195.1:c.*12C>T
ENST00000637234.1:c.*12C>T
ENST00000637581.1:c.*12C>T
ENST00000676233.1:n.1285C>T
ENST00000678163.1:c.*12C>T
ENST00000370695.6:c.*12C>T
ENST00000370698.7:c.*12C>T
ENST00000370701.5:c.*12C>T
NM_001042537.1:c.*12C>T
NM_001177651.1:c.*12C>T
NM_006359.2:c.*12C>T
NM_001330652.1:c.*12C>T
NM_001177651.2:c.*12C>T
NM_001330652.2:c.*12C>T
NM_006359.3:c.*12C>T
NM_001042537.2:c.*12C>T
NM_001400909.1:c.*12C>T
NM_001400910.1:c.*12C>T
NM_001400911.1:c.*12C>T
NM_001400912.1:c.*12C>T
NM_001400913.1:c.*12C>T

Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The allele frequency of the c.*12C>T variant in SLC9A6 is 0.05% in Admixed American sub population in gnomAD v4.0, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.*12C>T variant in SLC9A6 is classified as benign based on the ACMG/AMP criteria (BA1).
Met criteria codes
BA1
The allele frequency of the c.*12C>T variant in SLC9A6 is 0.05% in Admixed American sub population in gnomAD v4.0, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1).
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