ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.243+6T>A

gnomAD frequency: 0.00026  dbSNP: rs146888744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002289903 SCV000729237 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect, as the c.243+6>A variant disrupts the natural donor splice site of exon 2 and activates a cryptic splice site in intron 2, resulting in a frameshift due to an inclusion of 10 base pairs of intron 2 (Xie et al., 2022); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 35813381)
Labcorp Genetics (formerly Invitae), Labcorp RCV000874699 SCV001016910 benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-11-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148511 SCV001309410 benign Qualitative or quantitative defects of beta-sarcoglycan 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV002289903 SCV005257341 likely benign not provided criteria provided, single submitter not provided

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