ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.210del (p.Lys70fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526423 SCV005039994 pathogenic Ritscher-Schinzel syndrome 1 2024-03-08 criteria provided, single submitter clinical testing Variant summary: KIAA0196 c.210delA (p.Lys70AsnfsX11) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 250852 control chromosomes (gnomAD). To our knowledge, no occurrence of c.210delA in individuals affected with Ritscher-Schinzel Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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