ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser)

dbSNP: rs1685640502
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241452 SCV001403836 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2019-11-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with COL5A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 1111 of the COL5A2 protein (p.Pro1111Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
GeneDx RCV001760231 SCV001999004 uncertain significance not provided 2019-09-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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