ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)

dbSNP: rs1565779530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382674 SCV001581570 pathogenic Kabuki syndrome 2020-03-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has been observed in individual(s) with Kabuki syndrome (PMID: 21671394). ClinVar contains an entry for this variant (Variation ID: 635179). This sequence change creates a premature translational stop signal (p.Gln3683*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product.
Genome Sciences Centre, British Columbia Cancer Agency RCV000786035 SCV000924576 likely pathogenic Cavernous sinus meningioma 2019-05-21 no assertion criteria provided research

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