ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Uniklinik RWTH Aachen RCV001290428 SCV001478458 likely pathogenic Wiedemann-Steiner syndrome 2021-02-09 criteria provided, single submitter clinical testing The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or the literature. The variant leads to a frame shift and therefore, in all probability, to a loss of function of the corresponding protein. Mutations associated with a loss of function are known to be the cause of the disease in Wiedemann-Steiner syndrome (Jones et al., 2012). At the present time, the variant is to be regarded as a “likely pathogenic variant” (ACMG criteria).

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