ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)

gnomAD frequency: 0.00008  dbSNP: rs372247515
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071004 SCV001236285 benign Bethlem myopathy 1 2024-01-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001141517 SCV001301868 likely benign Collagen 6-related myopathy 2018-03-06 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV002291717 SCV002584485 uncertain significance not provided 2022-10-12 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
Ambry Genetics RCV002555902 SCV003708846 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.4595C>T (p.A1532V) alteration is located in exon 10 (coding exon 9) of the COL6A3 gene. This alteration results from a C to T substitution at nucleotide position 4595, causing the alanine (A) at amino acid position 1532 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002291717 SCV003834578 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing

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