ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.1172G>A (p.Arg391His)

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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 RCV003062490 SCV003441074 pathogenic not provided 2023-05-19 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with rickets (PMID: 24859502). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 391 of the VDR protein (p.Arg391His). This variant is present in population databases (rs776088779, gnomAD 0.004%). ClinVar contains an entry for this variant (Variation ID: 2137319). 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 VDR protein function. For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796759 SCV005418837 pathogenic Vitamin D-dependent rickets type II with alopecia criteria provided, single submitter clinical testing PM2_Supporting+PM3_Strong+PP4+PP3_Strong+PM5_Supporting

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