ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)

gnomAD frequency: 0.00001  dbSNP: rs387907298
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730723 SCV000858485 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001836716 SCV000891783 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV000030783 SCV001203871 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg192*) in the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy (PMID: 22303798, 26934379). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 37202). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000030783 SCV003931681 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000030783 SCV004208730 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-03-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000030783 SCV004238348 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-03-08 criteria provided, single submitter clinical testing
OMIM RCV000030783 SCV000053444 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2011-01-01 no assertion criteria provided literature only
Natera, Inc. RCV000030783 SCV001453382 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-09-16 no assertion criteria provided clinical testing

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