ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3126_3127del (p.Gln1043fs)

dbSNP: rs1554896575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523361 SCV000617430 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing Identified in two unrelated individuals from cohorts of patients with Kleefstra syndrome and intellectual disability in the published literature (Willemsen et al., 2012; Grozeva et al., 2015); Frameshift 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 at significant frequency in large population cohorts (gnomAD); De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; This variant is associated with the following publications: (PMID: 26350204, 22670141)
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004720270 SCV005045806 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation

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