ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala)

gnomAD frequency: 0.00001  dbSNP: rs756780275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001280316 SCV003023360 uncertain significance Primary ciliary dyskinesia 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1015 of the DNAH5 protein (p.Thr1015Ala). This variant is present in population databases (rs756780275, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DNAH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 992009). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DNAH5 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001280316 SCV001467490 uncertain significance Primary ciliary dyskinesia 2020-08-13 no assertion criteria provided clinical testing

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