ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=)

gnomAD frequency: 0.00222  dbSNP: rs75860159
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280471 SCV000340159 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307634 SCV000453380 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.
Invitae RCV000540475 SCV000655947 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000280471 SCV000711019 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile469Ile in Exon 14 of DIAPH1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.8% (24/2986) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs75860159).
GeneDx RCV001683161 SCV001903177 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001683161 SCV004562061 benign not provided 2023-09-18 criteria provided, single submitter clinical testing

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