ClinVar Miner

Submissions for variant NM_005933.4(KMT2A):c.2318dup (p.Ser774fs) (rs782297546)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598825 SCV000710056 pathogenic not provided 2018-08-14 criteria provided, single submitter clinical testing The c.2318dupC variant in the KMT2A gene has been reported previously in association with Wiedemann-Steiner syndrome (Farwell et al., 2015; Posey et al., 2017). The c.2318dupC variant causes a frameshift starting with codon Serine 774, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ser774ValfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2318dupC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2318dupC as a pathogenic variant.
Mendelics RCV000415145 SCV001138597 pathogenic Wiedemann-Steiner syndrome 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415145 SCV000328708 pathogenic Wiedemann-Steiner syndrome 2015-03-26 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in ARID1B (NM_017519.2, c.17G>A) and KMT2A (NM_005933.2, c.2318dup) in one individual with reported features of delayed motor milestones, delayed speech, intellectual disability, hypotonia, double jointed, strabismus, bicuspid aortic valve and inferior urethra.

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