ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.442C>T (p.Arg148Cys)

gnomAD frequency: 0.00001  dbSNP: rs1438410477
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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 RCV001344126 SCV001538162 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 148 of the DNAH1 protein (p.Arg148Cys). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with kartagener syndrome (PMID: 31507630). ClinVar contains an entry for this variant (Variation ID: 1040469). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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