Submissions for variant NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)

gnomAD frequency: 0.00001  dbSNP: rs1485132228

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000729014	SCV000856647	pathogenic	not provided	2017-09-18	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000785957	SCV000924539	likely pathogenic	Congenital stationary night blindness 1C	2018-06-15	criteria provided, single submitter	research	The homozygous p.Arg916Ter variant was identified by our study in two siblings with congenital stationary night blindness. This variant has been identified in <0.01% (1/111676) of European (Non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Loss of function of the TRPM1 gene is an established disease mechanism in congenital stationary night blindness typ 1C, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.
Revvity Omics, Revvity	RCV000785957	SCV003810188	likely pathogenic	Congenital stationary night blindness 1C	2022-05-31	criteria provided, single submitter	clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003230	SCV001161309	pathogenic	Congenital stationary night blindness	2019-06-23	no assertion criteria provided	research