ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1905del (p.Gly636fs)

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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 RCV002837577 SCV003206414 pathogenic Ehlers-Danlos syndrome, type 4 2022-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly636Valfs*155) 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 is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL3A1-related conditions.

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