ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) (rs376725882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255549 SCV000321732 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing The E81K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The E81K 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. This substitution occurs at a position that is conserved across species. However, 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.
Fulgent Genetics,Fulgent Genetics RCV000764716 SCV000895850 uncertain significance Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Preaxial polydactyly 4; Postaxial polydactyly type A1 2018-10-31 criteria provided, single submitter clinical testing

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