Submissions for variant NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)

gnomAD frequency: 0.01548  dbSNP: rs45608038

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000206180	SCV000261981	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000431594	SCV000528962	benign	not specified	2017-11-13	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000431594	SCV000711806	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Asn1786Asp in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 3.54% (234/6614) of Finnish chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs45608038).
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001172522	SCV001335575	benign	Monogenic diabetes	2018-10-26	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL =0.006 + 9 predictors), BA1 (1.5% MAF in gnomAD, 3.5 % in gnomAD European Finnish population), BS2 (60 homozygotes in gnomAD)= benign
Ambry Genetics	RCV002345743	SCV002641610	benign	Cardiovascular phenotype	2019-01-09	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000206180	SCV002797360	likely benign	Alstrom syndrome	2021-09-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795340	SCV004011178	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000206180	SCV004563046	benign	Alstrom syndrome	2023-09-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000431594	SCV001921842	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000431594	SCV001931456	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000431594	SCV001953104	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795340	SCV002036491	likely benign	not provided		no assertion criteria provided	clinical testing