ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) (rs200635842)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725495 SCV000337314 uncertain significance not provided 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000725495 SCV000573244 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing The R1265H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at any significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1265H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000276292 SCV000366663 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333726 SCV000366664 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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