ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1223_1229dup (p.Pro411fs)

dbSNP: rs1938142007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250566 SCV001425412 likely pathogenic Kabuki syndrome 1 2020-05-26 criteria provided, single submitter clinical testing This variant in KMT2D is absent from a large population dataset and has not been previously reported in the academic literature or ClinVar to our knowledge. This frameshift variant results in a premature stop codon in exon 9 of 54 likely leading to nonsense?mediated decay and lack of protein production. We consider c.1223_1229dupAACCAGG to be likely pathogenic.

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