ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)

dbSNP: rs1553769052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518562 SCV000612659 uncertain significance not specified 2017-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766911 SCV004585870 likely pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-11-30 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 446991). This missense change has been observed in individual(s) with hypocalciuric hypercalcemia (PMID: 32347971; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 735 of the CASR protein (p.Gln735Lys).

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