ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser)

dbSNP: rs778752861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239932 SCV001412836 uncertain significance Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 266 of the WNT10A protein (p.Gly266Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of WNT10A-related conditions (PMID: 23401279; Invitae). ClinVar contains an entry for this variant (Variation ID: 965475). 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. This variant disrupts the p.Gly266 amino acid residue in WNT10A. Other variant(s) that disrupt this residue have been observed in individuals with WNT10A-related conditions (PMID: 21143469), which suggests that this may be a clinically significant amino acid residue. 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.
Natera, Inc. RCV001834106 SCV002078834 uncertain significance SchC6pf-Schulz-Passarge syndrome 2021-06-25 no assertion criteria provided clinical testing

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