Submissions for variant NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)

gnomAD frequency: 0.01785  dbSNP: rs115517108

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082985	SCV000262082	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224703	SCV000281153	benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000418663	SCV000529347	benign	not specified	2016-10-11	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.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445406	SCV000536968	benign	Monogenic diabetes	2019-02-08	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL score 0.017 + 5 predictors, not using PP3/4 predictors), BA1 (5.7% in gnomAD African), BS2 (46 homozygotes in gnomAD), BP1 (most ALMS1 pathogenic variants are truncating)= benign
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000418663	SCV000966251	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Thr1384Arg in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 5.85% (573/9792) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs115517108).
Athena Diagnostics	RCV000224703	SCV001143001	benign	not provided	2019-03-21	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001082985	SCV002605253	benign	Alstrom syndrome		criteria provided, single submitter	research	Potent mutations in ALMS1 are associated with a rare condition called Alstrom syndrome. It can cause excessive eating, insulin resistance. However, no evidence is found to ascertain the role of rs115517108 in Alstrom syndrome yet.
Ambry Genetics	RCV002327067	SCV002630245	benign	Cardiovascular phenotype	2019-01-07	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001082985	SCV004563987	benign	Alstrom syndrome	2023-09-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001082985	SCV001458925	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000418663	SCV002034245	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224703	SCV002035657	likely benign	not provided		no assertion criteria provided	clinical testing