ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.433G>A (p.Val145Met)

dbSNP: rs543063101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525525 SCV000638467 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 145 of the WNT10A protein (p.Val145Met). This variant is present in population databases (rs543063101, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of odontoonychodermal dysplasia (PMID: 20979233, 30974434; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 464182). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WNT10A protein function. Experimental studies have shown that this missense change affects WNT10A function (PMID: 33034246). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV002289759 SCV002581089 likely pathogenic Odonto-onycho-dermal dysplasia 2022-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275114 SCV001459908 uncertain significance SchC6pf-Schulz-Passarge syndrome 2020-09-16 no assertion criteria provided clinical testing

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