Submissions for variant NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)

gnomAD frequency: 0.38002  dbSNP: rs6546839

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439494	SCV000524251	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	RCV000439494	SCV000711862	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Arg2284Pro in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 87.82% (1161/1322) of African chro mosomes by the 1000 Genomes Project (Phase 3; dbSNP rs6546839).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000986774	SCV001000228	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000986774	SCV001135896	benign	Alstrom syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986774	SCV001769059	benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365508	SCV002665541	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.
Fulgent Genetics, Fulgent Genetics	RCV000986774	SCV002811833	benign	Alstrom syndrome	2021-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004710021	SCV005242466	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000986774	SCV001463059	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000439494	SCV001925919	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000439494	SCV001963507	benign	not specified		no assertion criteria provided	clinical testing