ClinVar Miner

Submissions for variant NM_002222.6(ITPR1):c.6910G>A (p.Ala2304Thr) (rs201144431)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000353281 SCV000444991 benign Autosomal dominant cerebellar ataxia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000516848 SCV000613805 benign not specified 2016-11-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997973 SCV001153758 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000997973 SCV001791306 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing Reported as maternally inherited variant in individual with autism spectrum disorder; however, additional clinical information was not provided and information regarding parental phenotype was not available (Guo et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32859249, 30564305, 29232918)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000997973 SCV001744178 uncertain significance not provided no assertion criteria provided clinical testing

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