ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) (rs765998830)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000264094 SCV000366749 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323982 SCV000366750 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507051 SCV000603410 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing The p.Ala2701Val variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. However, it has been reported to ClinVar (Variation ID 302066). It is listed in the Genome Aggregation Database (gnomAD) with overall allele frequency of 0.0065 percent (identified on 2 out of 30,970 chromosomes). The alanine at position 2701 is moderately conserved (considering 11 species) and computational analyses of the effects of the p.Ala2701Val variant on protein structure and function predict a mixed effect (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Ala2701Val variant with certainty.
Invitae RCV000264094 SCV000630958 uncertain significance Jeune thoracic dystrophy 2017-06-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2701 of the DYNC2H1 protein (p.Ala2701Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs765998830, ExAC 0.05%). This variant has not been reported in the literature in individuals with a DYNC2H1-related disease. ClinVar contains an entry for this variant (Variation ID: 302066). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on DYNC2H1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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