Submissions for variant NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)

gnomAD frequency: 0.00002  dbSNP: rs563347395

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000336374	SCV000444716	benign	Autosomal dominant cerebellar ataxia	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970438	SCV001118015	benign	not provided	2023-11-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001660719	SCV001880157	benign	not specified	2020-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000970438	SCV001913665	benign	not provided	2021-04-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000970438	SCV004146780	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ITPR1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000970438	SCV005245538	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004752867	SCV005356870	benign	ITPR1-related disorder	2024-04-23	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).