ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.353G>A (p.Arg118Gln)

gnomAD frequency: 0.00003  dbSNP: rs370930322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655806 SCV000777737 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-05-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 118 of the DNAH1 protein (p.Arg118Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 544609). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions.

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