ClinVar Miner

Submissions for variant NM_000023.3(SGCA):c.322_325dup (p.Asn109Ilefs) (rs1555568522)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592869 SCV000701341 likely pathogenic not provided 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV000648060 SCV000769870 pathogenic Limb-girdle muscular dystrophy, type 2D 2017-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn109Ilefs*7) in the SGCA 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 identified in the homozygous state in individuals affected with limb-girdle muscular dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 289171). Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). For these reasons, this variant has been classified as Pathogenic.

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