ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.556C>G (p.Arg186Gly) (rs1057520375)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439297 SCV000514713 pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing The Q4219P variant in the KMT2D gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The Q4219P variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The Q4219P variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species and in silico analysis predicts this variant is probablydamaging to the protein structure/function. We interpret Q4219P as a pathogenic variant.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527652 SCV001738765 likely pathogenic Cornelia de Lange syndrome 1 2020-01-01 no assertion criteria provided clinical testing

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