ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2804C>G (p.Pro935Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012719 SCV004843731 uncertain significance Ehlers-Danlos syndrome, type 4 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV004759374 SCV005370919 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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