ClinVar Miner

Submissions for variant NM_004187.4(KDM5C):c.4030A>G (p.Met1344Val) (rs797044473)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766707 SCV000590004 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing The M1344V variant in the KDM5C gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M1344V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret M1344V as a variant of uncertain significance.
ITMI RCV000121279 SCV000085450 not provided not specified 2013-09-19 no assertion provided reference population

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