ClinVar Miner

Submissions for variant NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) (rs1057518074)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414422 SCV000491459 pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing The C1155Y pathogenic variant in the KMT2A gene has been reported previously as a de novo variant in an individual with Wiedemann-Steiner syndrome (Bramswig et al., 2015). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C1155Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other 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. As an alternate mechanism, several splice predictor models indicate that this sequence change may create a new cryptic splice donor site for intron 5, which may cause abnormal gene splicing. We interpret C1155Y as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824854 SCV000965754 pathogenic Wiedemann-Steiner syndrome 2015-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000824854 SCV000992782 likely pathogenic Wiedemann-Steiner syndrome 2017-12-31 criteria provided, single submitter clinical testing

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