ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)

dbSNP: rs1835194865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005094088 SCV001385361 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 481 of the COL5A1 protein (p.Gly481Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Ehlers Danlos syndrome (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 943513). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL5A1 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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