Submissions for variant NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)

gnomAD frequency: 0.00429  dbSNP: rs58093963

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224895	SCV000281294	likely benign	not provided	2016-02-10	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079332	SCV000290096	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000224895	SCV000534468	benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445367	SCV000536979	benign	Monogenic diabetes	2018-05-18	criteria provided, single submitter	research	ACMG criteria: BP4 (7 predictors), REVEL of 0.02, BS1 (1.93% in Ashkenazi Jewish and 1.33% in Africans), BS2 (5 homozygotes in African and European ExAC), BP1 (missense in gene with truncating cause disease), NOTE: likely in LD with rs75145370= benign
Genetic Services Laboratory, University of Chicago	RCV001729468	SCV002070956	benign	not specified	2018-09-27	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001079332	SCV002605260	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 rs58093963 in Alstrom syndrome yet.
Ambry Genetics	RCV002365167	SCV002656898	benign	Cardiovascular phenotype	2019-02-28	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	RCV000224895	SCV005257565	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729468	SCV001978278	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224895	SCV001979776	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001079332	SCV002082829	benign	Alstrom syndrome	2019-12-02	no assertion criteria provided	clinical testing