ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.1244C>T (p.Pro415Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004794667 SCV005415122 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004548913 SCV004715897 uncertain significance COL4A2-related disorder 2023-11-06 no assertion criteria provided clinical testing The COL4A2 c.1244C>T variant is predicted to result in the amino acid substitution p.Pro415Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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