ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)

gnomAD frequency: 0.00016  dbSNP: rs201166295
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252684 SCV000313075 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000861600 SCV001001968 likely benign Primary ciliary dyskinesia 2024-01-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122216 SCV001280918 uncertain significance Primary ciliary dyskinesia 15 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.
Ambry Genetics RCV000861600 SCV002728869 benign Primary ciliary dyskinesia 2017-07-11 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001122216 SCV004562221 likely benign Primary ciliary dyskinesia 15 2023-10-12 criteria provided, single submitter clinical testing

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