ClinVar Miner

Submissions for variant NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg)

dbSNP: rs780306040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Exeter Molecular Genetics Laboratory RCV001009621 SCV001167185 likely pathogenic Slender long bone; Hyperparathyroidism; Embryonic calcium dysregulation; Metaphyseal fractures 2018-07-20 criteria provided, single submitter clinical testing The p.(Gly660Arg) variant has been reported in the gnomAD database at a low frequency (5/138,451 individuals [1/27,690]). No homozygotes were reported. (PM2_Moderate). The p.(Gly660Arg) variant was detected in trans with a pathogenic nonsense variant, p.(Arg510Ter) (PM3_Moderate). The p.Gly660 residue is conserved across 19 species (to lamprey) and has a consurf score of 9. The p.(Gly660Arg) variant is predicted by SIFT, PolyPhen and AlignGVGD to have a deleterious effect on protein function (PP3_Supporting). The TRPV6 variants were identified by a gene-agnostic inheritance based strategy. This patient presented with embryonic calcium dysregulation, with gracile long bones and ribs. Calcium homeostasis returned post-natally, indicating an embryonically active calcium channel. TRPV6 encodes a calcium channel which shows exclusive expression in the human placenta (PP4_Supporting).

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