ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)

gnomAD frequency: 0.00001  dbSNP: rs1830127790
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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 RCV002241055 SCV001379221 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2019-09-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL5A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 1809 of the COL5A1 protein (p.Gln1809Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.
MGZ Medical Genetics Center RCV002241055 SCV002580131 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-05-20 criteria provided, single submitter clinical testing

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