ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)

dbSNP: rs149212775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241822 SCV001485559 benign Ehlers-Danlos syndrome, classic type, 1 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001751563 SCV002007194 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Fulgent Genetics, Fulgent Genetics RCV002486129 SCV002786181 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-10-07 criteria provided, single submitter clinical testing

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