ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.2T>C (p.Met1Thr)

dbSNP: rs1737457235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069412 SCV001234576 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-12-07 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SGCB mRNA. The next in-frame methionine is located at codon 22. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 12566530, 15938573, 25135358, 25862795). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 862654). For these reasons, this variant has been classified as Pathogenic.

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