ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3246del (p.Ala1083fs)

dbSNP: rs886041755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000385861 SCV000330504 pathogenic not provided 2016-05-06 criteria provided, single submitter clinical testing The c.3246delT variant in the SETD5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3246delT variant causes a frameshift starting with codon Alanine 1083, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Ala1083LeufsX61. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3246delT variant was not observed in approximately 6100 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.3246delT as a pathogenic variant.

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