ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) (rs772839719)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255158 SCV000321734 uncertain significance not provided 2015-04-30 criteria provided, single submitter clinical testing The E1040K variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The E1040K 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 and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, no other missense variants have been reported nearby according to the Human Gene Mutation Database (Stenson et al., 2014). 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 RCV000387520 SCV000469159 uncertain significance Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273966 SCV000469160 uncertain significance Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329014 SCV000469161 uncertain significance Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764715 SCV000895849 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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