ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2503G>C (p.Glu835Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Stanford Medicine RCV004527552 SCV005038746 uncertain significance Ehlers-Danlos syndrome, type 4 2021-05-17 criteria provided, single submitter clinical testing • The p.Glu835Gln variant in the COL3A1 gene has not been previously reported in association with disease. • This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). • Computational tools predict that the p.Glu835Gln variant is deleterious; however, the accuracy of in silico algorithms is limited. • These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Glu835Gln variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; PP3]

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