ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3143A>G (p.His1048Arg)

dbSNP: rs2153503727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582289 SCV001821118 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Occurs in the triple helical domain at the X 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 X position is not a common mechanism of disease (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016)
All of Us Research Program, National Institutes of Health RCV004008951 SCV004833837 uncertain significance Ehlers-Danlos syndrome, type 4 2023-05-08 criteria provided, single submitter clinical testing

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