ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5415del (p.Val1807fs)

dbSNP: rs2132943031
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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 RCV001905823 SCV002148988 pathogenic Ehlers-Danlos syndrome, classic type, 1 2021-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the COL5A1 protein in which other variant(s) (p.Gln1825*) have been determined to be pathogenic (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. This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the COL5A1 gene (p.Val1807Trpfs*60). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the COL5A1 protein and extend the protein by 27 additional amino acid residues.

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