Submissions for variant NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)

gnomAD frequency: 0.00579  dbSNP: rs28730852

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000467728	SCV000529345	benign	not provided	2018-06-24	criteria provided, single submitter	clinical testing
Invitae	RCV001084152	SCV000554289	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000427899	SCV000967035	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ser1064Pro in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 1.58% (155/9794) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28730852).
Athena Diagnostics	RCV000467728	SCV001143000	benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001172514	SCV001335567	benign	Monogenic diabetes	2018-05-18	criteria provided, single submitter	research	ACMG criteria: BP4 (9 predictors, Revel score 0.018), BS2 (35 cases and 38 controls in type2diabetesgenetics.org, 3 homozygotes in gnomAD), BP1, BS1 (MAF 1.7% in gnomAD Africans)= benign
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001084152	SCV002605252	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 rs28730852 in Alstrom syndrome yet.
Ambry Genetics	RCV002323633	SCV002609656	benign	Cardiovascular phenotype	2019-01-26	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.
Fulgent Genetics, Fulgent Genetics	RCV001084152	SCV002798779	likely benign	Alstrom syndrome	2021-09-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001084152	SCV004563832	likely benign	Alstrom syndrome	2023-08-16	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000467728	SCV001797355	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000427899	SCV001921982	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000427899	SCV001932942	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000427899	SCV001966279	benign	not specified		no assertion criteria provided	clinical testing