ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val)

gnomAD frequency: 0.00027  dbSNP: rs201860217
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000344404 SCV000335686 uncertain significance not provided 2015-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000803633 SCV000943513 uncertain significance Jeune thoracic dystrophy 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1825 of the DYNC2H1 protein (p.Ile1825Val). This variant is present in population databases (rs201860217, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 283519). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285728 SCV001472207 uncertain significance Asphyxiating thoracic dystrophy 3 2019-10-30 criteria provided, single submitter clinical testing The DYNC2H1 c.5473A>G; p.Ile1825Val variant (rs201860217), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 283519). This variant is found in the general population with an overall allele frequency of 0.02% (55/270634 alleles) in the Genome Aggregation Database. The isoleucine at codon 1825 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Ile1825Val variant is uncertain at this time.
GeneDx RCV000344404 SCV002008264 uncertain significance not provided 2019-08-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV001285728 SCV003835354 uncertain significance Asphyxiating thoracic dystrophy 3 2022-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021138 SCV004860412 uncertain significance Inborn genetic diseases 2022-11-22 criteria provided, single submitter clinical testing The c.5473A>G (p.I1825V) alteration is located in exon 35 (coding exon 35) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 5473, causing the isoleucine (I) at amino acid position 1825 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001285728 SCV005678307 uncertain significance Asphyxiating thoracic dystrophy 3 2023-12-27 criteria provided, single submitter clinical testing

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