ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp)

dbSNP: rs2091357682
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323837 SCV001442812 likely pathogenic Kleefstra syndrome 2 2023-07-28 criteria provided, single submitter clinical testing Variant summary: KMT2C c.13334G>A (p.Gly4445Asp) results in a non-conservative amino acid change located in the Extended PHD (ePHD) domain (IPR034732) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250922 control chromosomes. c.13334G>A has been observed in a de novo patient in our laboratory with confirmed maternity and paternity. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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