ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)

gnomAD frequency: 0.00022  dbSNP: rs200487337
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094294 SCV000399153 uncertain significance Primary ciliary dyskinesia 13 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.
Invitae RCV000271707 SCV000561286 likely benign Primary ciliary dyskinesia 2023-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275012 SCV002563355 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing DNAAF1: BP4, BP7
Ambry Genetics RCV000271707 SCV002727371 uncertain significance Primary ciliary dyskinesia 2022-09-01 criteria provided, single submitter clinical testing The c.1083C>T variant (also known as p.G361G), located in coding exon 8 of the DNAAF1 gene, results from a C to T substitution at nucleotide position 1083. This nucleotide substitution does not change the glycine at codon 361. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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