ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.-1+5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003105236 SCV003781936 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-04-13 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the SGCG gene. It does not change the encoded amino acid sequence of the SGCG protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 32875335). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003105236 SCV005056713 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-03-14 criteria provided, single submitter clinical testing

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