ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) (rs201043335)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506371 SCV000603395 uncertain significance not specified 2016-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292379 SCV000366649 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349630 SCV000366650 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000349630 SCV000755474 uncertain significance Jeune thoracic dystrophy 2017-11-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1140 of the DYNC2H1 protein (p.Gly1140Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs201043335, ExAC 0.1%). This variant has not been reported in the literature in individuals with DYNC2H1-related disease. ClinVar contains an entry for this variant (Variation ID: 302025). 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 C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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