ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139303 SCV003823672 uncertain significance DeSanto-Shinawi syndrome due to WAC point mutation 2021-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246085 SCV004979160 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.1865G>A (p.R622Q) alteration is located in exon 1 (coding exon 1) of the WAC gene. This alteration results from a G to A substitution at nucleotide position 1865, causing the arginine (R) at amino acid position 622 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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