ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7000C>T (p.Arg2334Trp)

dbSNP: rs1196495584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658462 SCV000780234 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing The R2334W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R2334W variant is not observed in large population cohorts (Lek et al., 2016). This 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Labcorp Genetics (formerly Invitae), Labcorp RCV003588661 SCV004344180 likely benign Kabuki syndrome 2023-08-30 criteria provided, single submitter clinical testing

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