Submissions for variant NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)

gnomAD frequency: 0.02293  dbSNP: rs11896293

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224264	SCV000281050	benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000422754	SCV000524255	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	RCV000445464	SCV000536992	benign	Monogenic diabetes	2019-02-08	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL score 0.034 + 8 predictors), BA1 (7.4% in gnomAD African) , BS2(70 homozygotes in gnomAD), BP1 (missense when truncating causes disease)= benign
Invitae	RCV001082984	SCV000554311	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000422754	SCV000711835	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ser3684Asn in exon 16 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 7.58% (734/9688) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs11896293).
Athena Diagnostics	RCV000224264	SCV001142995	benign	not provided	2019-03-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001082984	SCV002506012	benign	Alstrom syndrome	2023-09-06	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001082984	SCV002605267	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 rs11896293 in Alstrom syndrome yet.
Ambry Genetics	RCV002433942	SCV002745394	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.
Natera, Inc.	RCV001082984	SCV001455021	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224264	SCV001800044	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000422754	SCV001930122	benign	not specified		no assertion criteria provided	clinical testing