Submissions for variant NM_145068.4(TRPV3):c.2358G>T (p.Pro786=)

gnomAD frequency: 0.00212  dbSNP: rs75372730

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000332011	SCV000402105	benign	Isolated focal non-epidermolytic palmoplantar keratoderma	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.
Invitae	RCV002522927	SCV003263753	benign	not provided	2023-12-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950099	SCV004758638	benign	TRPV3-related condition	2019-12-05	criteria provided, single submitter	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).