ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) (rs138410949)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513744 SCV000610688 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513744 SCV000226370 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000174962 SCV000329378 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing The Q994R variant was previously reported in a patient with Bardet-Biedl syndrome who also had two variants identified in the BBS1 gene (Putoux et al., 2011). It was not observed with any significant frequency in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but the 1000 Genomes Project reports Q994R was observed in 9/1006 (0.9%) alleles from individuals of European background. The Q994R variant is a a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; however, Arginine is observed at this position in evolution. In silico analysis is inconsistent in its predictions as to whether or not the Q994R variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
UW Hindbrain Malformation Research Program,University of Washington RCV000201541 SCV000256440 pathogenic Acrocallosal syndrome, Schinzel type 2015-02-23 criteria provided, single submitter research

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