ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6733C>G (p.Leu2245Val)

gnomAD frequency: 0.00001  dbSNP: rs765020173
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044934 SCV001208758 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2019-01-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAH1-related conditions. This variant is present in population databases (rs765020173, ExAC 0.009%). This sequence change replaces leucine with valine at codon 2245 of the DNAH1 protein (p.Leu2245Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.

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