ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11057T>C (p.Val3686Ala)

dbSNP: rs1750176019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001955198 SCV002213788 uncertain significance Primary ciliary dyskinesia 2021-04-02 criteria provided, single submitter clinical testing 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 with DNAH5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 3686 of the DNAH5 protein (p.Val3686Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.

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