ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.5759C>T (p.Pro1920Leu) (rs199714090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000522128 SCV000928171 uncertain significance not provided 2019-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000522128 SCV000619077 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing The P1920L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P1920L 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). This 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 conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with FLNC-related disorders (Stenson et al., 2014).

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