ClinVar Miner

Submissions for variant NM_001168272.1(ITPR1):c.736G>A (p.Glu246Lys) (rs1553666546)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624199 SCV000741067 pathogenic Inborn genetic diseases 2015-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000519089 SCV000622001 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing The E246K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E246K variant is not observed in large population cohorts (Lek et al., 2016). The E246K 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. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Schule lab,Hertie Institute for Clinical Brain Research RCV000677367 SCV000700190 pathogenic Spinocerebellar ataxia 29 2018-02-09 criteria provided, single submitter research

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