ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) (rs143502850)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724857 SCV000227238 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202666 SCV000257903 uncertain significance not specified 2015-06-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390817 SCV000436479 benign Collagen VI-related myopathy 2018-01-13 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.
GeneDx RCV000724857 SCV000569115 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A1 gene. The A57D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A57D variant is observed in 89/65534 (0.1%) alleles from individuals of European non-Finnish background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A57D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory,University of Chicago RCV000202666 SCV000594194 uncertain significance not specified 2016-07-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000202666 SCV000613008 uncertain significance not specified 2017-03-14 criteria provided, single submitter clinical testing
Invitae RCV001086453 SCV000657003 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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