ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs)

dbSNP: rs1553769059
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003402889 SCV004118693 likely pathogenic CASR-related condition 2022-09-01 criteria provided, single submitter clinical testing The CASR c.2274delinsCC variant is predicted to result in a frameshift and premature protein termination (p.Ser759Leufs*11). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CASR are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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