Submissions for variant NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)

gnomAD frequency: 0.00077  dbSNP: rs17848880

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233922	SCV000290078	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000600687	SCV000715093	benign	not specified	2017-05-01	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	RCV000600687	SCV001365611	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Glu784Gly in exon 8 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 3.17% (273/8622) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs17848880).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000600687	SCV002015066	likely benign	not specified	2021-10-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000600687	SCV002070951	benign	not specified	2018-10-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444913	SCV002734478	benign	Cardiovascular phenotype	2019-04-29	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.
Natera, Inc.	RCV000233922	SCV001458914	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573659	SCV001799867	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000600687	SCV001917614	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573659	SCV001964639	likely benign	not provided		no assertion criteria provided	clinical testing