Submissions for variant NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)

gnomAD frequency: 0.00814  dbSNP: rs35062203

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081182	SCV000262067	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224531	SCV000281313	benign	not provided	2015-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000224531	SCV000530499	benign	not provided	2018-05-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16720663, 25296579, 17594715)
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445518	SCV000536984	benign	Monogenic diabetes	2019-02-22	criteria provided, single submitter	research	ACMG criteria: BP4 (9 predictors; Revel score 0.007), BS2 (18 homozygotes in gnomAD), BP1 (missense in gene with truncating mutations), BA1 (1.4% in European gnomAD; 1.1% in ESP); [InVitae, Partners & Childrens Mercy say benign but no longer using BP6]= benign
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000434271	SCV000711844	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Asn2944Lys in exon 10 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 1.38% (921/66738) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs35062203).
Ambry Genetics	RCV002372205	SCV002683422	benign	Cardiovascular phenotype	2018-12-29	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224531	SCV002822667	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001081182	SCV004563042	benign	Alstrom syndrome	2023-10-03	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224531	SCV001800093	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000434271	SCV001921989	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000434271	SCV001932946	benign	not specified		no assertion criteria provided	clinical testing