ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)

gnomAD frequency: 0.00002  dbSNP: rs747082651
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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 RCV000705347 SCV000834339 benign Bethlem myopathy 1A 2024-02-15 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000705347 SCV001860279 uncertain significance Bethlem myopathy 1A 2021-04-05 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 9 of the COL6A3 gene that results in the amino acid substitution of Methionine for Valine at codon 1234 was detected. The observed variant c.3700G>A (p.Val1234Met) has a minor allele frequency of 0.002% and 0.005% in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv), and damaging by SIFT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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