ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)

dbSNP: rs1555039343
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622624 SCV000742967 pathogenic Inborn genetic diseases 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000760554 SCV000890445 pathogenic not provided 2022-01-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28600779, 29276005, 31785789)
Invitae RCV000760554 SCV004294960 pathogenic not provided 2023-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1264*) in the KMT2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2A are known to be pathogenic (PMID: 22795537, 25810209, 29574747). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of KMT2A-related conditions (PMID: 28600779, 29276005, 31785789). ClinVar contains an entry for this variant (Variation ID: 522088). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987627 SCV004805004 pathogenic Wiedemann-Steiner syndrome 2024-03-17 criteria provided, single submitter research
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001256980 SCV001433526 pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV001261359 SCV001438233 pathogenic Hirsutism; Intellectual disability 2018-11-28 no assertion criteria provided clinical testing

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