ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2224del (p.Leu742fs)

dbSNP: rs1564744631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679974 SCV000807408 pathogenic Kleefstra syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory de novo in a set of 8-year-old monozygotic male twins with intellectual disability, autism, hypotonia, epilepsy, microcephaly, congenital heart disease.

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