ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)

dbSNP: rs772344964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788453 SCV000927575 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing
Invitae RCV002234176 SCV001235907 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000788453 SCV001547263 uncertain significance not provided 2020-09-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 636584; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014)

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