ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5498G>A (p.Ser1833Asn)

gnomAD frequency: 0.00006  dbSNP: rs189264230
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554361 SCV000660262 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs189264230, gnomAD 0.03%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 478461). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1833 of the DNAH1 protein (p.Ser1833Asn).

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