ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)

gnomAD frequency: 0.00351  dbSNP: rs148891849
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242807 SCV000307789 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081786 SCV000558009 benign Primary ciliary dyskinesia 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000766911 SCV000619150 likely benign not provided 2021-02-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27637763)
Illumina Laboratory Services, Illumina RCV001152318 SCV001313530 likely benign Primary ciliary dyskinesia 3 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV001081786 SCV002644233 benign Primary ciliary dyskinesia 2017-03-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001081786 SCV001458591 likely benign Primary ciliary dyskinesia 2020-01-01 no assertion criteria provided clinical testing

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