ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu)

gnomAD frequency: 0.00001  dbSNP: rs757674141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241566 SCV001420792 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2019-11-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with COL5A2-related conditions. This variant is present in population databases (rs757674141, ExAC 0.001%). This sequence change replaces proline with leucine at codon 448 of the COL5A2 protein (p.Pro448Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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