ClinVar Miner

Submissions for variant NM_023036.6(DNAI2):c.1053G>A (p.Thr351=)

gnomAD frequency: 0.04853  dbSNP: rs34392071
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000246980 SCV000314133 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094537 SCV000406358 benign Primary ciliary dyskinesia 9 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 RCV000292014 SCV000559747 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000246980 SCV000711307 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr351Thr in exon 9 of DNAI2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 15.8% (695/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs34392071).
GeneDx RCV001706361 SCV001914401 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000292014 SCV002712832 benign Primary ciliary dyskinesia 2014-12-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000292014 SCV001459505 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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