Submissions for variant NM_000376.3(VDR):c.239G>A (p.Arg80Gln)

dbSNP: rs121909793

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002512895	SCV003441239	pathogenic	not provided	2023-10-14	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 80 of the VDR protein (p.Arg80Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with vitamin D-dependent rickets (PMID: 2177843, 24246681). This variant is also known as 327G>A (Arg77Gln). ClinVar contains an entry for this variant (Variation ID: 7749). 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) performed at Invitae indicates that this missense variant is expected to disrupt VDR protein function. Experimental studies have shown that this missense change affects VDR function (PMID: 2177843). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000008190	SCV004805637	uncertain significance	Vitamin D-dependent rickets type II with alopecia	2024-03-25	criteria provided, single submitter	research
OMIM	RCV000008190	SCV000028397	pathogenic	Vitamin D-dependent rickets type II with alopecia	1990-04-01	no assertion criteria provided	literature only