ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9850G>A (p.Glu3284Lys)

gnomAD frequency: 0.00003  dbSNP: rs376653399
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655816 SCV000777747 likely pathogenic Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3284 of the DNAH1 protein (p.Glu3284Lys). This variant is present in population databases (rs376653399, gnomAD 0.04%). This missense change has been observed in individuals with DNAH1-related conditions (PMID: 28577616; Invitae). ClinVar contains an entry for this variant (Variation ID: 544619). 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 DNAH1 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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