Submissions for variant NM_007214.5(SEC63):c.230T>C (p.Ile77Thr)

gnomAD frequency: 0.00036  dbSNP: rs140251976

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000363330	SCV000459475	likely benign	Polycystic liver disease 2	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.
Fulgent Genetics, Fulgent Genetics	RCV000363330	SCV002797481	likely benign	Polycystic liver disease 2	2022-01-06	criteria provided, single submitter	clinical testing
Invitae	RCV002523540	SCV003281011	likely benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932463	SCV004751804	likely benign	SEC63-related condition	2022-04-01	criteria provided, single submitter	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).