ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter)

dbSNP: rs1555187117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626219 SCV000746864 pathogenic Kabuki syndrome 1 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388480 SCV001589479 pathogenic Kabuki syndrome 2022-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr4606*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 523017). For these reasons, this variant has been classified as Pathogenic.

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