ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)

gnomAD frequency: 0.00016  dbSNP: rs374826188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034901 SCV001198204 benign Primary ciliary dyskinesia 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164082 SCV001326182 uncertain significance Primary ciliary dyskinesia 7 2018-01-12 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 RCV001034901 SCV002681837 uncertain significance Primary ciliary dyskinesia 2016-07-06 criteria provided, single submitter clinical testing The p.R2744C variant (also known as c.8230C>T), located in coding exon 50 of the DNAH11 gene, results from a C to T substitution at nucleotide position 8230. The arginine at codon 2744 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was previously reported in the SNPDatabase as rs374826188. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (2/11844) total alleles studied and 0.02% (2/8194) European American alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001164082 SCV002780567 uncertain significance Primary ciliary dyskinesia 7 2022-01-18 criteria provided, single submitter clinical testing

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