ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)

gnomAD frequency: 0.00007  dbSNP: rs764762208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062877 SCV001227701 benign Bethlem myopathy 1 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555815 SCV003726230 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.1940G>A (p.R647Q) alteration is located in exon 30 (coding exon 30) of the COL6A1 gene. This alteration results from a G to A substitution at nucleotide position 1940, causing the arginine (R) at amino acid position 647 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145321 SCV003833800 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing

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