ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)

gnomAD frequency: 0.00024  dbSNP: rs143295106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204898 SCV001376127 likely benign Primary ciliary dyskinesia 2024-11-27 criteria provided, single submitter clinical testing
GeneDx RCV002298902 SCV002588006 uncertain significance not provided 2022-04-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001204898 SCV002706910 likely benign Primary ciliary dyskinesia 2021-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely 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. RCV001204898 SCV002078453 uncertain significance Primary ciliary dyskinesia 2020-02-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003918778 SCV004730472 uncertain significance DNAH5-related disorder 2023-10-18 no assertion criteria provided clinical testing The DNAH5 c.10435G>A variant is predicted to result in the amino acid substitution p.Ala3479Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-13754432-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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