ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6214C>T (p.Leu2072Phe)

dbSNP: rs866023654
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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 RCV000550752 SCV000660276 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2018-02-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 2072 of the DNAH1 protein (p.Leu2072Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNAH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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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