ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.634del (p.Arg212fs)

gnomAD frequency: 0.00002  dbSNP: rs1226345778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002245023 SCV002512819 likely pathogenic not provided 2021-10-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 86 amino acids are replaced with 3 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19170705, 32952553, 30963141)
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000582443 SCV000692316 pathogenic Glucocorticoid Deficiency 2013-01-15 no assertion criteria provided clinical testing

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