Submissions for variant NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)

dbSNP: rs138944426

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000989281	SCV000390203	benign	Congenital stationary night blindness 1C	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.
Eurofins Ntd Llc (ga)	RCV000597435	SCV000701984	benign	not specified	2016-10-06	criteria provided, single submitter	clinical testing
Invitae	RCV000957912	SCV001104733	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000989281	SCV001139539	likely benign	Congenital stationary night blindness 1C	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000989281	SCV002804905	benign	Congenital stationary night blindness 1C	2022-05-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957912	SCV004184444	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TRPM1: PP3, BS1, BS2