ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) (rs777525949)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522232 SCV000619189 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing The A283P variant in the FLVCR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A283P variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A283P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A283P as a variant of uncertain significance.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000522232 SCV001446626 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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