ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.81+5del

gnomAD frequency: 0.00175  dbSNP: rs200411544
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723615 SCV000113450 uncertain significance not provided 2013-05-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156059 SCV000205772 benign not specified 2018-05-10 criteria provided, single submitter clinical testing The c.81+5delG variant in DNAI1 is classified as benign because it has been iden tified in 3% (1022/34400) of Latino chromosomes, including 23 homozygotes, by th e Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP r s200411544). This deletion occurs within the splice site consensus sequence and is predicted to impact splicing by computational prediction tools. ACMG/AMP Crit eria applied: BA1; PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081396 SCV000255001 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000723615 SCV001833278 benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001081396 SCV002679020 benign Primary ciliary dyskinesia 2015-06-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114245 SCV003800280 benign Kartagener syndrome 2023-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754297 SCV000311867 benign DNAI1-related disorder 2024-05-17 no assertion criteria provided 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. RCV001081396 SCV001458179 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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