ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5371-11_*33delinsATGAAGCAAGC

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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 RCV005126893 SCV005757604 pathogenic Ehlers-Danlos syndrome, classic type, 1 2024-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (Splice site) in the COL5A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the COL5A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. This variant disrupts a region of the COL5A1 protein in which other variant(s) (p.Cys1835Ser) have been determined to be pathogenic (PMID: 19370768; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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