ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1265C>T (p.Pro422Leu)

dbSNP: rs568165971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819287 SCV000959938 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 422 of the DNAH1 protein (p.Pro422Leu). This variant is present in population databases (rs568165971, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 661792). 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"). 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.

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