ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu)

dbSNP: rs763107572
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001836679 SCV002097283 likely pathogenic Ehlers-Danlos syndrome, type 4 2022-02-14 criteria provided, single submitter clinical testing The variant is located in a mutational hot spot and/or critical and well-established functional domain (Collagen (G-X-Y)) - PM1. This variant is not present in population databases (rs763107572, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Missense variant in COL3A1 that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease - PP2. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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