ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5528C>A (p.Thr1843Lys)

gnomAD frequency: 0.00001  dbSNP: rs368356036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805025 SCV000944967 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-03-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. 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. This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 1843 of the DNAH1 protein (p.Thr1843Lys). 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"). ClinVar contains an entry for this variant (Variation ID: 649965).

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