ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.484G>C (p.Gly162Arg) (rs774679169)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236896 SCV000292946 uncertain significance not provided 2015-07-01 criteria provided, single submitter clinical testing The G162R variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 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 G162R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Additionally, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with CMT4H (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or a rare benign variant.

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