ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.648_649insA (p.Arg217fs)

dbSNP: rs1599668553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009164 SCV001168980 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing The c.648_649insA variant in the KMT2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.648_649insA variant causes a frameshift starting with codon Arginine 217, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Arg217ThrfsX35. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.648_649insA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.648_649insA as a pathogenic variant.
GenomeConnect, ClinGen RCV001249393 SCV001423390 not provided Dystonia 28, childhood-onset no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 12-31-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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