ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)

gnomAD frequency: 0.00001  dbSNP: rs121909258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517736 SCV000612661 pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000793559 SCV000932917 likely pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 795 of the CASR protein (p.Arg795Trp). This variant is present in population databases (rs121909258, gnomAD 0.01%). This missense change has been observed in individual(s) with familial hypocalciuric hypercalcemia (PMID: 11889203). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8312). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CASR function (PMID: 7916660, 9422777, 11102444, 12095982, 12114500, 17284438, 19389809, 21239511). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199039 SCV001370034 likely pathogenic Autosomal dominant hypocalcemia 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PP3,PP4,PP5.
OMIM RCV000008810 SCV000029020 pathogenic Familial hypocalciuric hypercalcemia 1 1994-11-01 no assertion criteria provided literature only

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