ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)

gnomAD frequency: 0.00028  dbSNP: rs2289532
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220731 SCV000268842 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu382Lys in exon 7 of CCDC40: This variant is not expected to have clinical sig nificance because it has been identified in 5.2% (10/194) of Han Chinese chromos omes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.ni h.gov/projects/SNP; dbSNP rs2289532).
Invitae RCV000472550 SCV000558505 benign Primary ciliary dyskinesia 2023-12-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122107 SCV001280801 benign Primary ciliary dyskinesia 15 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV000472550 SCV002613064 benign Primary ciliary dyskinesia 2019-04-15 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.

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