ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) (rs140782270)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083198 SCV000218561 likely benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724138 SCV000224885 uncertain significance not provided 2014-12-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219496 SCV000271688 uncertain significance not specified 2015-02-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asn402Lys var iant in DNAH5 was identified in 1 heterozygous individual with primary ciliary d yskinesia (Cozzolino 2009). It has also been identified in 0.23% (153/66670) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs140782270). Computational prediction tools and conservat ion analysis do not provide strong support for or against an impact to the prote in. In summary, while the clinical significance of the p.Asn402Lys variant is un certain, its frequency suggests that it is more likely to be benign.
Counsyl RCV000665936 SCV000790148 uncertain significance Ciliary dyskinesia, primary, 3 2017-03-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724138 SCV001154370 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665936 SCV001312402 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.

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