ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn)

gnomAD frequency: 0.00002  dbSNP: rs773462232
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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 RCV002077195 SCV005440655 likely benign Pitt-Hopkins syndrome 2024-08-30 reviewed by expert panel curation The highest population minor allele frequency of the p.Ser82Asn variant in TCF4 in gnomAD v2.1.1 is 0.00006 in African/African American population (not sufficient to meet BS1 criteria). The p.Ser82Asn variant is observed in at least 2 unaffected individuals (internal database - GeneDx and Invitae) (BS2). Computational analysis prediction tools suggest that the p.Ser82Asn variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Ser82Asn variant in TCF4 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4). (TCF4 specifications v.3; approved on 8/30/2024)
GeneDx RCV001755142 SCV001995995 uncertain significance not provided 2019-09-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002077195 SCV002332946 benign Pitt-Hopkins syndrome 2022-01-13 criteria provided, single submitter clinical testing

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