ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.11969G>A (p.Gly3990Glu)

gnomAD frequency: 0.00001  dbSNP: rs1265988328
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305545 SCV001494883 uncertain significance Primary ciliary dyskinesia 2023-06-26 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 DNAH8 protein function. ClinVar contains an entry for this variant (Variation ID: 1008242). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 3990 of the DNAH8 protein (p.Gly3990Glu).

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