ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn)

gnomAD frequency: 0.00002  dbSNP: rs148288567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002234967 SCV000943997 benign Ehlers-Danlos syndrome, classic type, 1 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001592996 SCV001822431 uncertain significance not provided 2020-11-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 649219; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek 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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