ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.11583C>A (p.Ser3861Arg) (rs576096758)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439859 SCV000520925 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing The S3861R variant in the DNAH5 gene has been reported previously in an individual with primary ciliary dyskinesia; however, the pathogenicity of this variant was not confirmed, and no second DNAH5 variant was identified in this individual (Djakow et al., 2012). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S3861R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S3861R as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV001155590 SCV001317028 uncertain significance Ciliary dyskinesia, primary, 3 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198864 SCV001369859 uncertain significance Pulmonary arterial hypertension; Pectus carinatum; Dextrocardia; Situs ambiguus 2020-03-12 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PP1,PP3. This variant was detected in heterozygous state.

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