ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val)

gnomAD frequency: 0.00001  dbSNP: rs1251846979
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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 RCV002231334 SCV000631603 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1293 of the COL5A2 protein (p.Ala1293Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of COL5A2-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 459748). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COL5A2 protein function with a negative predictive value of 80%. 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.
PreventionGenetics, part of Exact Sciences RCV003409780 SCV004112411 uncertain significance COL5A2-related disorder 2023-01-26 criteria provided, single submitter clinical testing The COL5A2 c.3878C>T variant is predicted to result in the amino acid substitution p.Ala1293Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189904045-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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