Submissions for variant NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)

gnomAD frequency: 0.00915  dbSNP: rs62151609

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180332	SCV000232744	benign	not specified	2014-11-19	criteria provided, single submitter	clinical testing
Invitae	RCV001079928	SCV000290094	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000180332	SCV000528958	benign	not specified	2017-11-20	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.
Athena Diagnostics Inc	RCV000231099	SCV001143003	benign	not provided	2019-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000180332	SCV001363238	benign	not specified	2019-08-27	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000180332	SCV001365610	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Pro1820Pro in exon 8 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2.93% (194/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs62151609).
Ambry Genetics	RCV002345626	SCV002650539	benign	Cardiovascular phenotype	2019-02-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV000231099	SCV002822666	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001079928	SCV004562802	benign	Alstrom syndrome	2023-10-02	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001079928	SCV001463050	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing