ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.12017A>C (p.Gln4006Pro)

gnomAD frequency: 0.00005  dbSNP: rs369197857
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300732 SCV001489881 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 4006 of the DNAH1 protein (p.Gln4006Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs369197857, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. 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.
CeGaT Center for Human Genetics Tuebingen RCV001815534 SCV002062485 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing DNAH1: PM2, BP4
Ambry Genetics RCV004036181 SCV003685482 uncertain significance not specified 2024-11-15 criteria provided, single submitter clinical testing The c.12017A>C (p.Q4006P) alteration is located in exon 75 (coding exon 74) of the DNAH1 gene. This alteration results from a A to C substitution at nucleotide position 12017, causing the glutamine (Q) at amino acid position 4006 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001815534 SCV003830115 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing

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