ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.656_657del (p.Lys219fs)

dbSNP: rs775458201
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530736 SCV000642377 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys219Serfs*2) 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). This variant is present in population databases (no rsID available, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 466603). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000530736 SCV002783200 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-10-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000530736 SCV004201000 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-04-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000530736 SCV004238646 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-07-11 criteria provided, single submitter clinical testing
Counsyl RCV000530736 SCV000790743 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-04-06 no assertion criteria provided clinical testing

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