ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.595_598del (p.Asn199fs)

dbSNP: rs762114570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672896 SCV000798048 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2018-02-21 criteria provided, single submitter clinical testing
Invitae RCV000672896 SCV001234520 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556837). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 12566530). This variant is present in population databases (rs762114570, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asn199Phefs*17) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821).

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