Submissions for variant NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=)

gnomAD frequency: 0.00575  dbSNP: rs35047189

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000307174	SCV000444907	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958647	SCV001105514	benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288210	SCV001475168	benign	not specified	2020-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000958647	SCV001914134	benign	not provided	2020-01-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000958647	SCV005245573	benign	not provided		criteria provided, single submitter	not provided