ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) (rs121909295)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664788 SCV000788801 pathogenic Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2016-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000760352 SCV000890212 pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing The R165X nonsense variant in the SGCD gene has been reported previously in the homozygous state in an individual with LGMD type 2F (Duggan et al., 1997). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R165X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, R165X is considered a pathogenic variant.
Invitae RCV000008650 SCV001384521 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg165*) in the SGCD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with limb-girdle muscular dystrophy (PMID: 10735275, 19770540). ClinVar contains an entry for this variant (Variation ID: 8172). Loss-of-function variants in SGCD are known to be pathogenic (PMID: 8841194, 10735275, 10838250). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008650 SCV000028859 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 1997-05-01 no assertion criteria provided literature only

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