ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=)

gnomAD frequency: 0.03749  dbSNP: rs34296458
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150409 SCV000197588 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Tyr130Tyr in Exon 04 of DIAPH1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 11.9% (376/3154) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34296458)."
PreventionGenetics, part of Exact Sciences RCV000150409 SCV000310908 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316277 SCV000453389 benign Autosomal dominant nonsyndromic hearing loss 1 2018-01-13 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 RCV000541586 SCV000655970 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000150409 SCV000718762 benign not specified 2017-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000991924 SCV001143791 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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