Submissions for variant NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)

gnomAD frequency: 0.01071  dbSNP: rs78039319

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233437	SCV000290092	benign	Alstrom syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000428195	SCV000524247	benign	not specified	2016-12-05	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.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445537	SCV000536973	benign	Monogenic diabetes	2019-02-15	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL 0.049 + 6 predictors; not using PP3 (2 predictors)), BP1 (missense when truncating cause ds), BS2 (18 homozygotes in gnomAD), BA1 (3.4% MAF in gnomAD African): Benign ( ALMS1 p.P2184S and p.K1810N are likely in LD)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000428195	SCV000711811	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Lys1810Asn in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 3.30% (320/9702) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs78039319).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000233437	SCV002506092	benign	Alstrom syndrome	2022-02-08	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV000233437	SCV002605255	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 rs78039319 in Alstrom syndrome yet.
Ambry Genetics	RCV002347903	SCV002648028	benign	Cardiovascular phenotype	2019-01-07	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.
Natera, Inc.	RCV000233437	SCV001463048	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000428195	SCV002034140	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795371	SCV002036999	likely benign	not provided		no assertion criteria provided	clinical testing