ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)

gnomAD frequency: 0.00009  dbSNP: rs368160013
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000149937 SCV000196788 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Illumina Laboratory Services, Illumina RCV000316783 SCV000436778 benign Collagen 6-related myopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000373797 SCV000436779 uncertain significance Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001053729 SCV001218005 likely benign Bethlem myopathy 1 2023-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514870 SCV003633333 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.2566G>A (p.V856M) alteration is located in exon 28 (coding exon 27) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 2566, causing the valine (V) at amino acid position 856 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000149937 SCV003832514 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing

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