ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)

gnomAD frequency: 0.00046  dbSNP: rs141807661
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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 RCV000284216 SCV000468147 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000284216 SCV001228588 benign Primary ciliary dyskinesia 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV002264932 SCV002546745 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000284216 SCV002674064 uncertain significance Primary ciliary dyskinesia 2016-10-14 criteria provided, single submitter clinical testing The p.V2518A variant (also known as c.7553T>C), located in coding exon 46 of the DNAH11 gene, results from a T to C substitution at nucleotide position 7553. The valine at codon 2518 is replaced by alanine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs141807661. Based on data from the 1000 Genomes Project, the C allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.57% (1/176) Yoruba alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.03% (4/12104) total alleles studied, having been observed in 0.1% (4/3836) African American alleles. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002504178 SCV002801360 uncertain significance Primary ciliary dyskinesia 7 2022-02-21 criteria provided, single submitter clinical testing

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