ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.13775G>A (p.Arg4592Gln) (rs367709427)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229430 SCV000287063 uncertain significance Primary ciliary dyskinesia 2018-10-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 4592 of the DNAH5 protein (p.Arg4592Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs367709427, ExAC 0.02%) but has not been reported as a germline variant in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000670498 SCV000452849 uncertain significance Ciliary dyskinesia, primary, 3 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.
Counsyl RCV000670498 SCV000795355 uncertain significance Ciliary dyskinesia, primary, 3 2017-11-03 criteria provided, single submitter clinical testing

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