ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7147G>T (p.Gly2383Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120162 SCV003799850 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing The DNAH1 c.7147G>T; p.Gly2383Cys variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The glycine at codon 2383 is highly conserved, but computational analyses predict that this variant is neutral (REVEL: 0.124). Due to limited information, the clinical significance of the this variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778657 SCV004591310 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-03-13 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DNAH1 protein function. ClinVar contains an entry for this variant (Variation ID: 2428561). 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 glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 2383 of the DNAH1 protein (p.Gly2383Cys).

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