ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter)

dbSNP: rs1586390087
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267231 SCV001445412 pathogenic Inborn genetic diseases 2021-03-23 criteria provided, single submitter clinical testing The c.232C>T (p.Q78*) alteration, located in exon 3 (coding exon 2) of the WASHC5 gene, results from a C to T substitution at nucleotide position 232. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 78. 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.
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital RCV004556081 SCV005045317 pathogenic Ritscher-Schinzel syndrome 1 2024-02-01 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.