Submissions for variant NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly)

gnomAD frequency: 0.87820  dbSNP: rs2037814

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000610347	SCV000711929	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Val671Gly in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 94.88% (10945/11536) of Latino chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs2037814).
GeneDx	RCV000610347	SCV000724554	benign	not specified	2017-11-03	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.
Invitae	RCV000860047	SCV000999962	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860047	SCV001769052	benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420583	SCV002723688	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.	RCV000860047	SCV001458908	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610347	SCV001742915	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000610347	SCV001922462	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000610347	SCV001928807	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000610347	SCV001951047	benign	not specified		no assertion criteria provided	clinical testing