Submissions for variant NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)

gnomAD frequency: 0.01527  dbSNP: rs28730849

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082528	SCV000261783	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224192	SCV000281160	benign	not provided	2016-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000444233	SCV000532109	benign	not specified	2016-10-06	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	RCV000445400	SCV000536962	benign	Monogenic diabetes	2019-02-08	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL score 0.007 + 9 predictors), BA1 (5.1% in African gnomAD), BS2 (36 homozygotes in gnomAD), BP1 (missense in gene with truncating cause disease)= Benign
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000444233	SCV000967032	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Thr382Ala in exon 5 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 7.19% (95/1322) of African chromoso mes by the 1000 Genomes Project (Phase 3; dbSNP rs28730849).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001082528	SCV002605251	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 rs28730849 in Alstrom syndrome yet.
Ambry Genetics	RCV002453744	SCV002615623	benign	Cardiovascular phenotype	2018-12-26	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	RCV000224192	SCV004701419	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000224192	SCV005242438	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001082528	SCV001458903	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000444233	SCV002034128	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224192	SCV002035702	likely benign	not provided		no assertion criteria provided	clinical testing