Submissions for variant NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)

gnomAD frequency: 0.13807  dbSNP: rs10496192

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427680	SCV000524287	benign	not specified	2016-09-23	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	RCV000427680	SCV000711928	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ile2070Thr in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 16.61% (10786/64944) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs10496192).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860400	SCV001000442	benign	Alstrom syndrome	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860400	SCV001769057	benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356561	SCV002655365	benign	Cardiovascular phenotype	2018-12-21	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	RCV004708868	SCV005242462	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000860400	SCV001463053	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000427680	SCV001740758	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000427680	SCV001924334	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000427680	SCV001955919	benign	not specified		no assertion criteria provided	clinical testing