ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala)

gnomAD frequency: 0.00001  dbSNP: rs1305527957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001277831 SCV002967091 uncertain significance Primary ciliary dyskinesia 2022-06-24 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 389 of the DNAH5 protein (p.Thr389Ala). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 989925). 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. 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. RCV001277831 SCV001464809 uncertain significance Primary ciliary dyskinesia 2020-08-13 no assertion criteria provided clinical testing

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