ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4812dup (p.Met1605fs)

dbSNP: rs1555194510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547428 SCV000636662 pathogenic Kabuki syndrome 2017-01-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in KMT2D are known to be pathogenic (PMID: 24633898, 22126750). This sequence change inserts 1 nucleotide in exon 19 of the KMT2D mRNA (c.4812dupC), causing a frameshift at codon 1605. This creates a premature translational stop signal (p.Met1605Hisfs*26) and is expected to result in an absent or disrupted protein product.

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