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]
  • See Evidence submitted by expert panel for details.

Variant: NM_001042537.1(SLC9A6):c.1648-3C>T

CA208905

139206 (ClinVar)

Gene: SLC9A6
Condition: Christianson syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 7baa86cb-8d45-4b9d-b456-eb9cc14e2ec9
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_001042537.1:c.1648-3C>T
NM_001042537.1(SLC9A6):c.1648-3C>T
ENST00000370695.8:c.1648-3C>T
ENST00000370701.6:c.1492-3C>T
ENST00000630721.3:c.1582-3C>T
ENST00000636092.1:c.1492-3C>T
ENST00000636206.2:n.822-3C>T
ENST00000636347.1:c.1492-3C>T
ENST00000636625.1:n.483-3C>T
ENST00000636798.1:n.927-3C>T
ENST00000637195.1:c.1396-3C>T
ENST00000637234.1:c.1492-3C>T
ENST00000637581.1:c.1492-3C>T
ENST00000638078.1:n.59+3249C>T
ENST00000675856.1:n.1435-3C>T
ENST00000678163.1:c.1738-3C>T
ENST00000370695.6:c.1648-3C>T
ENST00000370698.7:c.1552-3C>T
ENST00000370701.5:c.1492-3C>T
ENST00000626147.1:n.378C>T
ENST00000630721.1:n.228-3C>T
NM_001177651.1:c.1492-3C>T
NM_006359.2:c.1552-3C>T
NM_001330652.1:c.1396-3C>T
NM_001177651.2:c.1492-3C>T
NM_001330652.2:c.1396-3C>T
NM_006359.3:c.1552-3C>T
NM_001042537.2:c.1648-3C>T
NM_001379110.1:c.1582-3C>T
NC_000023.11:g.136033411C>T
CM000685.2:g.136033411C>T
NC_000023.10:g.135115570C>T
CM000685.1:g.135115570C>T
NC_000023.9:g.134943236C>T
NG_017160.1:g.52985C>T
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Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The allele frequency of the c.1552-3C>T variant in SLC9A6 is 0.78% in South Asian sub population in gnomAD, 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.1552-3C>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.1552-3C>T variant in SLC9A6 is 0.78% in South Asian sub population in gnomAD, 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.
Curation History
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