ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5311G>A (p.Glu1771Lys)

gnomAD frequency: 0.00001  dbSNP: rs1479169341
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690413 SCV000818097 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-11-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 569713). 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 DNAH1 protein function. This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1771 of the DNAH1 protein (p.Glu1771Lys).

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