ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr)

dbSNP: rs1554808357
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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 RCV002231307 SCV000631538 pathogenic Ehlers-Danlos syndrome, classic type, 1 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1671 of the COL5A1 protein (p.Cys1671Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of 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: 459707). 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 expected to disrupt COL5A1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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