Submissions for variant NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)

gnomAD frequency: 0.00468  dbSNP: rs113803159

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723519	SCV000114743	uncertain significance	not provided	2013-02-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000723519	SCV000519783	likely benign	not provided	2021-09-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082125	SCV000638298	benign	Brody myopathy	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082125	SCV001277725	likely benign	Brody myopathy	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 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	RCV000082699	SCV001476940	benign	not specified	2019-10-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723519	SCV004143395	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ATP2A1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003915107	SCV004729091	benign	ATP2A1-related disorder	2019-05-29	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).