Submissions for variant NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)

gnomAD frequency: 0.00071  dbSNP: rs201144431

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, 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	RCV000516848	SCV000613805	benign	not specified	2016-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics 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)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000997973	SCV002137016	likely benign	not provided	2024-01-16	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000997973	SCV001744178	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000997973	SCV001972885	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950216	SCV004763698	likely benign	ITPR1-related disorder	2023-06-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).