ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu)

gnomAD frequency: 0.00002  dbSNP: rs1297565068
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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 RCV002233873 SCV000935092 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1569 of the COL5A1 protein (p.Pro1569Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. 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"). 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.
MGZ Medical Genetics Center RCV002233873 SCV002581476 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-03-14 criteria provided, single submitter clinical testing

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