ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) (rs777625241)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191074 SCV000245466 likely pathogenic Ehlers-Danlos syndrome, classic type 2013-11-19 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in an 18-year-old female with hyperextensibility, soft skin, easy brising, chronic joint dislocations, supraventricular tachycardia, TMJ, migraines, muscle weakness. Inherited from similarly affected mother.
Invitae RCV000191074 SCV000631513 uncertain significance Ehlers-Danlos syndrome, classic type 2017-06-22 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 136 of the COL5A1 protein (p.Pro136Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs777625241, ExAC 0.002%). This variant has not been reported in the literature in individuals with a COL5A1-related disease. ClinVar contains an entry for this variant (Variation ID: 209143). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on COL5A1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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