ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)

gnomAD frequency: 0.00029  dbSNP: rs142155986
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227953 SCV000287088 likely benign Primary ciliary dyskinesia 2025-01-06 criteria provided, single submitter clinical testing
Counsyl RCV000669971 SCV000794774 uncertain significance Primary ciliary dyskinesia 3 2017-10-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000669971 SCV001319402 uncertain significance Primary ciliary dyskinesia 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.
Ambry Genetics RCV000227953 SCV003683781 uncertain significance Primary ciliary dyskinesia 2021-08-18 criteria provided, single submitter clinical testing The c.5413C>T (p.R1805C) alteration is located in exon 33 (coding exon 33) of the DNAH5 gene. This alteration results from a C to T substitution at nucleotide position 5413, causing the arginine (R) at amino acid position 1805 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000669971 SCV003831742 uncertain significance Primary ciliary dyskinesia 3 2022-07-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311723 SCV004011572 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003311723 SCV005411771 uncertain significance not provided 2024-05-02 criteria provided, single submitter clinical testing
MAGI's Lab - Research, MAGI Group RCV001327951 SCV001432729 uncertain significance Infertility disorder no assertion criteria provided provider interpretation
Natera, Inc. RCV000227953 SCV001457562 uncertain significance Primary ciliary dyskinesia 2020-01-06 no assertion criteria provided clinical testing

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