ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.781G>A (p.Val261Ile)

gnomAD frequency: 0.00003  dbSNP: rs746214307
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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 RCV002048686 SCV002306762 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 261 of the VDR protein (p.Val261Ile). This variant is present in population databases (rs746214307, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with VDR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1516080). 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002492380 SCV002798217 uncertain significance Vitamin D-dependent rickets type II with alopecia 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418341 SCV004117650 uncertain significance VDR-related disorder 2023-03-22 criteria provided, single submitter clinical testing The VDR c.781G>A variant is predicted to result in the amino acid substitution p.Val261Ile. This variant was reported in an individual with susceptibility to COVID-19 (Benetti et al. 2020. PubMed ID: 33206719). This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-48240566-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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