Submissions for variant NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)

gnomAD frequency: 0.01772  dbSNP: rs34071195

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082556	SCV000262079	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000424086	SCV000532098	benign	not specified	2016-10-10	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	RCV000445470	SCV000536989	benign	Monogenic diabetes	2019-02-15	criteria provided, single submitter	research	ACMG criteria: BA1 (6% in Africans in gnomAD), BS2 (41 homozygotes in gnomAD), BP1 (missense in gene with truncating cause disease)= benign; REVEL 0.068 + PP3/5 predictors + BP4/4 predictors
Athena Diagnostics Inc	RCV000710528	SCV000840767	benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000424086	SCV000967041	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Lys3434Glu in exon 15 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 5.77% (565/9788) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs34071195).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001082556	SCV002605265	uncertain significance	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 rs34071195 in Alstrom syndrome yet.
Ambry Genetics	RCV002381711	SCV002701183	benign	Cardiovascular phenotype	2018-12-24	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001082556	SCV004564710	benign	Alstrom syndrome	2023-11-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001082556	SCV001453041	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710528	SCV001800006	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710528	SCV001929419	likely benign	not provided		no assertion criteria provided	clinical testing