ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)

gnomAD frequency: 0.00029  dbSNP: rs370397767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230299 SCV001402774 benign Bethlem myopathy 1 2023-07-17 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV002221267 SCV002498657 uncertain significance Collagen 6-related myopathy 2021-12-02 criteria provided, single submitter clinical testing This sequence change in COL6A3 is predicted to replace proline with threonine at codon 2051, p.(Pro2051Thr). The proline residue is moderately conserved (100 vertebrates, UCSC), and is located in the collagen triple helical domain. There is a small physicochemical difference between proline and threonine. The highest population minor allele frequency in gnomAD v2.1 is 0.025% (9/35,440 alleles) in the Latino/admixed American population. To our knowledge, this variant has not been reported in the literature in any individuals with COL6A3-related myopathies. It has been reported as a variant of uncertain significance (ClinVar ID: 957336). Multiple lines of computational evidence have conflicting predictions for the missense substitution (2/6 algorithms predict deleterious). Based on the classification scheme RMH Modified ACMG Guidelines v1.4.0, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: none.
Revvity Omics, Revvity RCV003145438 SCV003833005 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing

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