ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5000T>C (p.Phe1667Ser)

dbSNP: rs2132887689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758996 SCV002006624 uncertain significance not provided 2019-03-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016)

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