ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5139del (p.Pro1714fs)

dbSNP: rs886041627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000395668 SCV000330327 pathogenic not provided 2016-03-06 criteria provided, single submitter clinical testing The c.5139delG pathogenic variant in the KMT2D gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5139delG variant causes a frameshift starting with codon Proline 1714, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Pro1714LeufsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5139delG variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.5139delG as a pathogenic variant.

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