ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.1199G>C (p.Cys400Ser)

dbSNP: rs1575235227
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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 RCV001208383 SCV001379767 uncertain significance Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 400 of the WNT10A protein (p.Cys400Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WNT10A-related conditions. ClinVar contains an entry for this variant (Variation ID: 939057). 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 expected to disrupt WNT10A protein function with a positive predictive value of 80%. 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.

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