ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338165 SCV004047144 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C criteria provided, single submitter clinical testing The stop gained (c.786C>G) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.786C>G variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change c.786C>G in SGCG is predicted as conserved by GERP++. The p.Tyr262Ter variant is a loss of function variant in the gene SGCG. Since this variant is present in the last exon functional studies will be required to prove protein truncation. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).
Baylor Genetics RCV003338165 SCV005056722 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-11-27 criteria provided, single submitter clinical testing

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