Submissions for variant NM_001005337.3(PKP1):c.418G>A (p.Ala140Thr)

gnomAD frequency: 0.00236  dbSNP: rs77893096

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000293537	SCV000353224	likely benign	Epidermolysis bullosa simplex due to plakophilin deficiency	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.
Invitae	RCV000911947	SCV001057029	likely benign	not provided	2023-05-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957540	SCV004774116	likely benign	PKP1-related condition	2020-01-07	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).