Submissions for variant NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)

gnomAD frequency: 0.00515  dbSNP: rs28730855

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079939	SCV000290102	benign	Alstrom syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000514944	SCV000528961	benign	not provided	2019-02-22	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445515	SCV000536981	benign	Monogenic diabetes	2018-09-07	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL 0.018 + 8 predictors), BP1, BS2 (5 homozygotes in gnomAD), BA1 (1.7% MAF in gnomAD)=Benign
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514944	SCV000609745	likely benign	not provided	2017-05-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820751	SCV002068743	benign	not specified	2018-09-27	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001079939	SCV002605262	likely 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 rs28730855 in Alstrom syndrome yet.
Ambry Genetics	RCV002365210	SCV002666445	benign	Cardiovascular phenotype	2019-01-14	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	RCV001079939	SCV004563445	likely benign	Alstrom syndrome	2023-11-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001079939	SCV002082837	benign	Alstrom syndrome	2019-12-06	no assertion criteria provided	clinical testing