ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1154G>A (p.Arg385Gln)

gnomAD frequency: 0.00002  dbSNP: rs1420909531
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230328 SCV001402803 uncertain significance Pitt-Hopkins syndrome 2023-06-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TCF4-related conditions. 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: 957364). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 385 of the TCF4 protein (p.Arg385Gln).

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