ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile)

gnomAD frequency: 0.10451  dbSNP: rs17263496
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155504 SCV000205202 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr3791Ile in exon 66 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 12.7% (1092/8600) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs17263496).
PreventionGenetics, part of Exact Sciences RCV000155504 SCV000307672 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095107 SCV000453048 likely benign Primary ciliary dyskinesia 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). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000300910 SCV001000404 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095107 SCV001738560 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001709506 SCV001938424 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000300910 SCV002611188 benign Primary ciliary dyskinesia 2014-12-11 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.
Breakthrough Genomics, Breakthrough Genomics RCV001709506 SCV005259170 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000300910 SCV001452260 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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