ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.910A>C (p.Asn304His)

gnomAD frequency: 0.00001  dbSNP: rs1434390821
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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 RCV000639737 SCV000761318 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2023-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 532829). This missense change has been observed in individual(s) with clinical features of odonto-onycho-dermal dysplasia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 304 of the WNT10A protein (p.Asn304His).
Natera, Inc. RCV001835029 SCV002078837 uncertain significance SchC6pf-Schulz-Passarge syndrome 2021-04-25 no assertion criteria provided clinical testing

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