ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.1028C>T (p.Pro343Leu)

gnomAD frequency: 0.00001  dbSNP: rs1944675271
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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 RCV001910291 SCV002180410 likely pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 343 of the WNT10A protein (p.Pro343Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with WNT10A-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1413070). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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