ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1122dup (p.Ser375fs)

dbSNP: rs1554859292
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522884 SCV000620157 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing The c.1122dupC variant in the EHMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1122dupC variant causes a frameshift starting with codon Serine 375, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ser375GlnfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.1122dupC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of the c.1122dupC pathogenic variant is consistent with the diagnosis of Kleefstra syndrome in this individual.

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