ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs)

dbSNP: rs2153039957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570026 SCV001794220 pathogenic not provided 2024-08-09 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 78 amino acids are lost and replaced with 49 incorrect amino acids; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35904121, 34217350)
Institute of Human Genetics, University Hospital of Duesseldorf RCV003314009 SCV004013439 likely pathogenic Intellectual disability, autosomal dominant 51 criteria provided, single submitter not provided

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