ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6594del (p.Tyr2199fs)

dbSNP: rs1555192751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638440 SCV000759955 pathogenic Kabuki syndrome 2017-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2199Ilefs*65) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with Kabuki syndrome (PMID: 21671394). Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004758713 SCV005344160 pathogenic KMT2D-related disorder 2024-04-04 no assertion criteria provided clinical testing The KMT2D c.6594delC variant is predicted to result in a frameshift and premature protein termination (p.Tyr2199Ilefs*65). This variant was reported in an individual with Kabuki syndrome (Table S2, Hannibal et al. 2011. PubMed ID: 21671394). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in KMT2D are expected to be pathogenic. This variant is interpreted as pathogenic.

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