ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.749C>A (p.Ser250Ter) (rs1085307777)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489792 SCV000577276 likely pathogenic not provided 2017-04-05 criteria provided, single submitter clinical testing The S250X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although S250X has not been previously reported to our knowledge, other nonsense variants in the COL6A3 gene have been reported in the Human Gene Mutation Database in association with COL6A3-related disorders (Stenson et al., 2014).

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