ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.1085G>T (p.Cys362Phe)

dbSNP: rs1575235098
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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 RCV000795841 SCV000935319 uncertain significance Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2020-08-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 362 of the WNT10A protein (p.Cys362Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of ectodermal dysplasia (Invitae). ClinVar contains an entry for this variant (Variation ID: 642382). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Cys362 amino acid residue in WNT10A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24902757, 2897600). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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