ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val)

dbSNP: rs1602624950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV001027761 SCV000998779 likely pathogenic Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004753055 SCV005344355 pathogenic TAF1-related disorder 2024-03-11 no assertion criteria provided clinical testing The TAF1 c.4580C>T variant is predicted to result in the amino acid substitution p.Ala1527Val. This variant has been documented in two unrelated individuals with X-linked syndromic intellectual developmental disorder 33, including as a hemizygous de novo finding in one of the cases (Cheng et al. 2020. PubMed ID: 31646703; Lunke et al. 2020. PubMed ID: 32573669). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.

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