ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.7015C>T (p.His2339Tyr)

gnomAD frequency: 0.00004  dbSNP: rs373404092
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629376 SCV000750313 uncertain significance Primary ciliary dyskinesia 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 2339 of the DNAH8 protein (p.His2339Tyr). This variant is present in population databases (rs373404092, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 525322). 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 expected to disrupt DNAH8 protein function with a positive predictive value of 80%. 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.

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