ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) (rs72645347)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415259 SCV000492940 likely pathogenic Bruising susceptibility; Fragile skin; Joint hypermobility 2014-12-03 criteria provided, single submitter clinical testing
Invitae RCV000631472 SCV000752552 pathogenic Osteogenesis imperfecta type I 2018-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 312 of the COL1A1 protein (p.Arg312Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Ehlers-Danlos syndrome (EDS) in a single family (PMID: 28102596) and was reported in individuals affected with EDS, including individuals in whom the variant arose de novo (PMID: 25597651, 17211858, 23587214, 10739762). ClinVar contains an entry for this variant (Variation ID: 17343). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018884 SCV000039168 pathogenic Ehlers-Danlos syndrome, classic type 2000-04-01 no assertion criteria provided literature only

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