ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln) (rs751707411)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425735 SCV000533922 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing The R356Q variant in the BEST1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R356Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R356Q variant is 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 where amino acids with similar properties to Arginine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R356Q as a variant of uncertain significance.
Noruzinia Laboratory,Tarbiat Modares University RCV000850038 SCV000965598 uncertain significance Cone-rod dystrophy 6 criteria provided, single submitter clinical testing This variant possibly associates with a pathogenic mutation in GUCY2D to develop Cone-rod dystrophy-6 disease. It is possible to hypothesize a double heterozygosity scenario to explain the condition. The c.887G>A variant is present in heterozygote state in healthy participants.

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