ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)

gnomAD frequency: 0.00032  dbSNP: rs146203427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860822 SCV001000984 likely benign Primary ciliary dyskinesia 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165754 SCV001327992 uncertain significance Kartagener syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV000860822 SCV002651593 likely benign Primary ciliary dyskinesia 2016-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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. RCV000860822 SCV001458365 uncertain significance Primary ciliary dyskinesia 2020-01-09 no assertion criteria provided clinical testing

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