ClinVar Miner

Submissions for variant NM_015275.3(WASHC4):c.878G>A (p.Arg293Gln)

gnomAD frequency: 0.00145  dbSNP: rs35267264
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210608 SCV000262932 uncertain significance Inborn genetic diseases 2012-11-29 criteria provided, single submitter clinical testing N/AN/ABased on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.12% (11/9498 total alleles studied). The A-allele was observed in 0.17% of European American (11/6556 alleles), was not observed among 2942 African American alleles studied, and has not been observed in the homozygous state among 4749 individuals studied. Based on data from the 1000 Genomes Project, the A-allele has an overall frequency of approximately 2/2188 (0.09%) and the highest frequency was in the British (0.56% 1/178 alleles). This amino acid position is completely conserved in available vertebrate species.This alteration is predicted to be possibly damaging with a score of 0.770 (sensitivity: 0.76; specificity: 0.86)This alteration is predicted to be tolerated with a score of 0.340 (conservation: 1.75)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224419 SCV000281321 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000224419 SCV001025122 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224419 SCV004131806 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing WASHC4: BS2
PreventionGenetics, part of Exact Sciences RCV003955242 SCV004769211 likely benign WASHC4-related condition 2023-05-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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