ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)

gnomAD frequency: 0.00024  dbSNP: rs199864090
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319457 SCV000468205 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000319457 SCV000815452 benign Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764704 SCV000895838 uncertain significance Primary ciliary dyskinesia 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000319457 SCV002746961 uncertain significance Primary ciliary dyskinesia 2017-08-08 criteria provided, single submitter clinical testing The p.V3750G variant (also known as c.11249T>G), located in coding exon 69 of the DNAH11 gene, results from a T to G substitution at nucleotide position 11249. The valine at codon 3750 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to betolerated by SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genomics Laboratory, Washington University in St. Louis RCV000764704 SCV004177173 uncertain significance Primary ciliary dyskinesia 7 2023-08-14 criteria provided, single submitter clinical testing The DNAH11 c.11249T>G (p.Val3750Gly) variant, to our knowledge, has not been reported in the medical literature in an individual with primary ciliary dyskinesia but has been reported in the ClinVar database as a germline variant of uncertain significance by three submitters and a benign variant by one submitter. The overall minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.02% which is lower than the incidence of autosomal recessive primary ciliary dyskinesia. The valine at this codon is not conserved across vertebrates and computational predictors suggest that the variant does not impact DNAH11 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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