ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)

gnomAD frequency: 0.00018  dbSNP: rs142480526
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000403149 SCV000453393 benign Autosomal dominant nonsyndromic hearing loss 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825747 SCV000967206 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala67Val in exon 3 of DIAPH1: This variant is not expected to have clinical si gnificance because it has been identified in 0.64% (55/8616) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs142480526).
Labcorp Genetics (formerly Invitae), Labcorp RCV000966695 SCV001114041 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001683397 SCV001901573 benign not provided 2018-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957817 SCV004776109 benign DIAPH1-related disorder 2020-01-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.