ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter)

dbSNP: rs1576474929
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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 RCV000797790 SCV000937369 pathogenic Ehlers-Danlos syndrome, type 4 2022-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 643968). This premature translational stop signal has been observed in individual(s) with clinical features of vascular Ehlers-Danlos syndrome (PMID: 31126764). This sequence change creates a premature translational stop signal (p.Gln1454*) in the COL3A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 13 amino acid(s) of the COL3A1 protein.

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