ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.594G>T (p.Ser198=)

dbSNP: rs368553922
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Total submissions: 3
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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 RCV004797611 SCV005419044 uncertain significance Pitt-Hopkins syndrome 2024-08-30 reviewed by expert panel curation The p.Ser198= variant in TCF4 is absent from gnomAD v4.1 (PM2_Supporting). The p.Ser198= variant is observed in at least 1 unaffected individual (internal database - GeneDx) (BS2_Supporting). The p.Ser198= variant is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5). The silent p.Ser198= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Ser198= variant in TCF4 is classified as Uncertain significance based on the ACMG/AMP criteria (PM2_Supporting, BS2_Supporting, BP5, BP7).
GeneDx RCV000444889 SCV000522574 likely benign not specified 2015-12-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000726870 SCV000703748 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing

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