ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter)

dbSNP: rs2132943056
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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 RCV001965192 SCV002209482 pathogenic Ehlers-Danlos syndrome, classic type, 1 2020-11-20 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the COL5A1 protein. Other variant(s) that disrupt this region (p.Gln1825*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This sequence change creates a premature translational stop signal (p.Gln1809*) in the COL5A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the COL5A1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Ehlers-Danlos syndrome (Invitae).

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