ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.6796G>A (p.Ala2266Thr)

dbSNP: rs1023849945
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300296 SCV001489433 uncertain significance Primary ciliary dyskinesia 2022-07-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1003707). 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. 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. This variant has not been reported in the literature in individuals affected with DNAH5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2266 of the DNAH5 protein (p.Ala2266Thr).

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