ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) (rs150887098)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723911 SCV000885336 uncertain significance not provided 2017-05-29 criteria provided, single submitter clinical testing The p.Val1899Ile variant has not been reported in the medical literature or gene specific variation databases. However, it has been reported to ClinVar (Variation ID 167010). It is listed in the Genome Aggregation Consortium (gnomAD) browser with overall allele frequency of 0.08 percent (identified on 126 out of 156,432 chromosomes, including 1 homozygote). The valine at position 1899 is highly conserved (considering 12 species) and computational analyses of the effects of the p.Val1899Ile variant on protein structure and function predict a mixed effect (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Val1899Ile variant with certainty.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723911 SCV000202637 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000153167 SCV000611386 uncertain significance not specified 2017-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764930 SCV000896102 uncertain significance Short-rib thoracic dysplasia 3 with or without polydactyly 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000167971 SCV000366707 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374745 SCV000366708 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000167971 SCV000218619 uncertain significance Jeune thoracic dystrophy 2015-06-23 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1899 of the DYNC2H1 protein (p.Val1899Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This sequence change has not been published in the literature and is present in population databases (rs150887098, 0.2%). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this is a rare missense change with uncertain impact on protein function. Although there is no indication that this sequence change causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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