Submissions for variant NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=)

gnomAD frequency: 0.38498  dbSNP: rs1052162

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000444290	SCV000524257	benign	not specified	2016-09-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000444290	SCV000711851	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Leu4058Leu in exon 20 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 80.11% (1059/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs1052162).
Invitae	RCV000860249	SCV001000231	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860249	SCV001769211	benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356560	SCV002660291	benign	Cardiovascular phenotype	2018-12-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV000860249	SCV001455032	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000444290	SCV001743058	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000444290	SCV001921186	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000444290	SCV001951414	benign	not specified		no assertion criteria provided	clinical testing