ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.801_802del (p.Pro268fs)

dbSNP: rs2137534216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002247236 SCV002520048 likely pathogenic not provided 2021-09-14 criteria provided, single submitter clinical testing PM2, PM3_supporting, PVS1_strong
Baylor Genetics RCV000002082 SCV004201060 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-12-07 criteria provided, single submitter clinical testing
GeneDx RCV002247236 SCV005437445 likely pathogenic not provided 2024-06-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 24 amino acids are replaced with 49 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 8923014)
OMIM RCV000002082 SCV000022240 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 1996-11-01 no assertion criteria provided literature only

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