ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser)

dbSNP: rs1555789091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696929 SCV000621843 likely benign not provided 2018-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003617821 SCV004559853 uncertain significance Pitt-Hopkins syndrome 2023-03-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TCF4 protein function. ClinVar contains an entry for this variant (Variation ID: 452993). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 301 of the TCF4 protein (p.Asn301Ser).

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