ClinVar Miner

Submissions for variant NM_023036.6(DNAI2):c.468-4G>T

gnomAD frequency: 0.00321  dbSNP: rs146462823
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094488 SCV000406345 uncertain significance Primary ciliary dyskinesia 9 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000358485 SCV000559744 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000358485 SCV002638190 benign Primary ciliary dyskinesia 2014-10-09 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.
Genetics and Molecular Pathology, SA Pathology RCV001094488 SCV002761400 likely benign Primary ciliary dyskinesia 9 2019-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418021 SCV004144141 benign not provided 2023-09-01 criteria provided, single submitter clinical testing DNAI2: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003912348 SCV004729232 benign DNAI2-related condition 2019-03-18 criteria provided, single submitter 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).
Natera, Inc. RCV000358485 SCV002088848 likely benign Primary ciliary dyskinesia 2019-10-23 no assertion criteria provided clinical testing

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