Submissions for variant NM_004320.6(ATP2A1):c.870C>T (p.Arg290=)

gnomAD frequency: 0.00012  dbSNP: rs201786788

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001537830	SCV000529457	likely benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524732	SCV000638301	benign	Brody myopathy	2025-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000524732	SCV001279951	likely benign	Brody myopathy	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics	RCV000432544	SCV001476941	benign	not specified	2019-10-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970196	SCV004784232	benign	ATP2A1-related disorder	2019-09-05	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).