ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys)

dbSNP: rs1599570613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV000851328 SCV001712030 likely pathogenic Pitt-Hopkins syndrome 2021-05-11 reviewed by expert panel curation The p.Gly496Cys variant in TCF4 occurs in the confirmed de novo state in an individual with a neurodevelopmental disorder consistent with TCF4 abnormality (PS2). The p.Gly496Cys variant in TCF4 is absent from gnomAD (PM2_supporting). This variant occurs at the last amino acid residue in exon 16 and is predicted to affect the canonical splice donor site in intron 16 by several splice prediction programs. In summary, the p.Gly496Cys variant in TCF4 is classified as Likely Pathogenic based on the ACMG/AMP criteria (PS2, PM2_supporting, PP3).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851328 SCV000993624 likely pathogenic Pitt-Hopkins syndrome 2019-02-04 criteria provided, single submitter research

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