ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4323dup (p.Val1442fs)

dbSNP: rs1688730568
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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 RCV001204750 SCV001375971 pathogenic Ehlers-Danlos syndrome, type 4 2022-10-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 936031). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the COL3A1 protein in which other variant(s) (p.Phe1456Leu) 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 COL3A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1442Cysfs*7) in the COL3A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the COL3A1 protein.

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