ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1442del (p.Ala481fs)

dbSNP: rs1688268302
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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 RCV001233148 SCV001405730 pathogenic Ehlers-Danlos syndrome, type 4 2023-05-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala481Valfs*55) in the COL3A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 959744).

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