ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)

gnomAD frequency: 0.00001  dbSNP: rs753297152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218445 SCV001390327 likely benign Bethlem myopathy 1 2023-01-15 criteria provided, single submitter clinical testing
GeneDx RCV002281170 SCV002569537 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV002281170 SCV003833870 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284068 SCV003961860 uncertain significance Inborn genetic diseases 2023-03-17 criteria provided, single submitter clinical testing The c.1297C>T (p.R433W) alteration is located in exon 19 (coding exon 19) of the COL6A1 gene. This alteration results from a C to T substitution at nucleotide position 1297, causing the arginine (R) at amino acid position 433 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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