ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu)

gnomAD frequency: 0.00044  dbSNP: rs372641908
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377802 SCV000332750 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000377802 SCV000885339 uncertain significance not provided 2018-03-25 criteria provided, single submitter clinical testing The DYNC2H1 c.6093T>G; p.Asp2031Glu variant (rs372641908, ClinVar variant ID 281777), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.1% (identified on 34 out of 23,996 chromosomes). The aspartic acid at position 2031 is highly conserved, considering 28 species, and computational analyses of the effects of the p.Asp2031Glu variant on protein structure and function predict a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Asp2031Glu variant cannot be determined with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV001459433 SCV001663272 likely benign Jeune thoracic dystrophy 2024-11-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820808 SCV002070177 uncertain significance not specified 2020-03-17 criteria provided, single submitter clinical testing The sequence change, c.6093T>G, in exon 38 results in an amino acid change, p.Asp2031Glu. This sequence change does not appear to have been previously described in patients with DYNC2H1-related disorders and has been described in the gnomAD database with a low population frequency of 0.14% in the African subpopulation (dbSNP rs372641908). The p.Asp2031Glu change affects a highly conserved amino acid residue located in a domain of the DYNC2H1 protein that is known to be functional. The p.Asp2031Glu substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL).Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asp2031Glu change remains unknown at this time.
GeneDx RCV000377802 SCV002512947 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002519099 SCV003702478 uncertain significance Inborn genetic diseases 2024-08-05 criteria provided, single submitter clinical testing The c.6093T>G (p.D2031E) alteration is located in exon 38 (coding exon 38) of the DYNC2H1 gene. This alteration results from a T to G substitution at nucleotide position 6093, causing the aspartic acid (D) at amino acid position 2031 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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