ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val)

dbSNP: rs1584803942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000993740 SCV001146929 likely pathogenic See cases 2019-02-07 criteria provided, single submitter research The heterozygous p.Asp907Val variant in KMT2E was identified by our study in one individual with intellectual disabilities and developmental delay. Trio exome analysis showed this variant to be de novo. The p.Asp907Val variant in KMT2E has not been previously reported in individuals with intellectual disabilities or developmental delay and was absent from large population studies. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.
OMIM RCV000790640 SCV000929987 pathogenic O'Donnell-Luria-Rodan syndrome 2019-07-25 no assertion criteria provided literature only

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