ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.765_767del (p.Lys255_Phe256delinsAsn)

dbSNP: rs1555984238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599515 SCV000710364 pathogenic not provided 2018-01-29 criteria provided, single submitter clinical testing The c.792_794delGTT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The cc.792_794delGTT variant is not observed in large population cohorts (Lek et al., 2016). The c.792_794delGTT variant results in an in-frame replacement of 2 correct amino acids with 1 incorrect amino acid denoted p.Lys264_Phe265delinsAsn. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The presence of this pathogenic variant is consistent with the diagnosis of a DYRK1A-related disorder in this individual.

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