ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.305dup (p.His102fs)

dbSNP: rs2491926757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002793670 SCV003601249 pathogenic Inborn genetic diseases 2022-01-25 criteria provided, single submitter clinical testing The c.305dupA (p.H102Qfs*8) alteration, located in exon 4 (coding exon 4) of the WAC gene, consists of a duplication of A at position 305, causing a translational frameshift with a predicted alternate stop codon after 8 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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