ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.735_736del (p.Asn246fs)

dbSNP: rs2109369924
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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 RCV002007307 SCV002227689 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn246Tyrfs*33) in the SGCB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 73 amino acid(s) of the SGCB protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SGCB protein. Other variant(s) that disrupt this region (p.Met247Asnfs*33) have been determined to be pathogenic (PMID: 15938573). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SGCB-related conditions. This variant is not present in population databases (ExAC no frequency).

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