ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn)

dbSNP: rs796053413
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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 RCV000560032 SCV005200078 likely benign Pitt-Hopkins syndrome 2024-06-25 reviewed by expert panel curation The p.Ser102Asn variant in TCF4 is present in 1 XX individual in gnomAD v4.0 (0.00016%) (not sufficient to meet BS1 criteria). The p.Ser102Asn variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). Computational analysis prediction tools suggest that the p.Ser102Asn variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Ser102Asn variant in TCF4 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4).
GeneDx RCV000189717 SCV000243365 likely benign not provided 2022-08-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000560032 SCV000646127 uncertain significance Pitt-Hopkins syndrome 2021-09-01 criteria provided, single submitter clinical testing

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