Submissions for variant NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)

gnomAD frequency: 0.40153  dbSNP: rs6546838

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434913	SCV000524248	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	RCV000434913	SCV000711857	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ile1875Val in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 85.85% (1135/1322) of African chro mosomes by the 1000 Genomes Project (Phase 3; dbSNP rs6546838).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860244	SCV001000226	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860244	SCV001769056	benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348190	SCV002649262	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: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics	RCV004710019	SCV005242460	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000860244	SCV001463051	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000434913	SCV001742239	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000434913	SCV001925048	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000434913	SCV001959135	benign	not specified		no assertion criteria provided	clinical testing