ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1425del (p.Gly476fs) (rs878854398)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research,Children's National Medical Center RCV000228165 SCV000265828 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
GeneDx RCV000255364 SCV000322513 likely pathogenic not provided 2015-12-23 criteria provided, single submitter clinical testing The c.1425delA variant in the COL6A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1425delA variant causes a frameshift starting with codon Glycine 476, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Gly476AlafsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1425delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Protein truncating pathogenic variants downstream of this variant have been reported in the Human Gene Mutation Database in association with COL6A1-related disorders (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants. The c.1425delA variant is a strong candidate for a pathogenic variant, however, the possibility it may be a rare benign variant cannot be excluded.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000255364 SCV000333904 pathogenic not provided 2018-06-19 criteria provided, single submitter clinical testing

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