ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)

gnomAD frequency: 0.00004  dbSNP: rs202213517
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204755 SCV000261945 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000754880 SCV000479747 likely benign Kartagener syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV000204755 SCV002682469 benign Primary ciliary dyskinesia 2019-04-20 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.
CeGaT Center for Human Genetics Tuebingen RCV003430766 SCV004157671 benign not provided 2023-12-01 criteria provided, single submitter clinical testing DNAI1: BS1, BS2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000754880 SCV000778477 likely pathogenic Kartagener syndrome 2018-05-28 flagged submission research
Natera, Inc. RCV000204755 SCV002085144 benign Primary ciliary dyskinesia 2020-01-16 no assertion criteria provided clinical testing

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