Submissions for variant NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)

gnomAD frequency: 0.02105  dbSNP: rs34927702

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083350	SCV000261781	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224052	SCV000280731	benign	not provided	2015-12-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000437592	SCV000529303	benign	not specified	2016-10-12	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	RCV000445530	SCV000536993	benign	Monogenic diabetes	2019-02-08	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL 0.064 + 7 predictors; not using PP3/3 predictors), BA1 (6.3% MAF in gnomAD Africans), BS2 (56 homozygotes in gnomAD), BP1 (most ALMS1 pathogenic variants are truncating)=benign
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000437592	SCV000711831	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly3755Ser in exon 16 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 6.45% (623/9664) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs34927702).
Athena Diagnostics	RCV000224052	SCV001142996	benign	not provided	2019-05-14	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001083350	SCV002605272	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 rs34927702 in Alstrom syndrome yet.
Ambry Genetics	RCV002433911	SCV002753467	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: 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.
Breakthrough Genomics, Breakthrough Genomics	RCV000224052	SCV005242484	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001083350	SCV001455022	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000437592	SCV002034078	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224052	SCV002036244	likely benign	not provided		no assertion criteria provided	clinical testing