Submissions for variant NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser)

gnomAD frequency: 0.39950  dbSNP: rs10193972

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430188	SCV000524253	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	RCV000430188	SCV000711856	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Asn2856Ser in exon 10 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 85.78% (1134/1322) of African chr omosomes by the 1000 Genomes Project (Phase 3; dbSNP rs10193972).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860248	SCV001000230	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860248	SCV001769063	benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411336	SCV002676247	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	RCV004710022	SCV005242470	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000860248	SCV001453030	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000430188	SCV001742370	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000430188	SCV001920199	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000430188	SCV001952786	benign	not specified		no assertion criteria provided	clinical testing