ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9947del (p.Gly3316fs)

dbSNP: rs1592129138
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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 RCV000797060 SCV000936600 pathogenic Kabuki syndrome 2018-08-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KMT2D-related disease. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly3316Valfs*14) in the KMT2D gene. It is expected to result in an absent or disrupted protein product.

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