ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.251_252insAA (p.His84fs)

dbSNP: rs1554776447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521640 SCV000621135 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing The c.251_252insAA variant in the WAC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.251_252insAA variant causes a frameshift starting with codon Histidine 84, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 109 of the new reading frame, denoted p.His84GlnfsX109. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.251_252insAA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.251_252insAA as a pathogenic variant.

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