ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) (rs142022233)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445528 SCV000536987 benign Monogenic diabetes 2018-05-18 criteria provided, single submitter research ACMG criteria: [BP4 (3 predictors) PP3 (6 predictors) Revel score 0.193: conflicting data, not using], BS2 (20 homozygotes in gnomAD, all but 1 South Asian), BS1 (2.67% in South Asians in gnomAD), BP1 (missense variant when truncating is disease causing) (Partners/Invitae/GeneDx all call benign but no longer using BP6)= benign
Invitae RCV000532855 SCV000631813 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602571 SCV000711823 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asn3304Ser in exon 13 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 2.76% (455/16484) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut; dbSNP rs142022233).
GeneDx RCV000602571 SCV000714608 benign not specified 2017-01-24 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000602571 SCV000864096 benign not specified 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.9911A>G (p.Asn3304Ser; alternative nomenclature c.9917A>G, p.N3306S) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant. This variant was found in 1363/276886 control chromosomes, predominantly observed in the South Asian subpopulation at a frequency of 0.026704 (821/30744), including 19 homozygotes. This frequency is about 12 times the estimated maximal expected allele frequency of a pathogenic ALMS1 variant (0.0022361), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. An internal specimen also carries a pathogenic MYBPC3, supporting the benign role of the variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Natera, Inc. RCV000532855 SCV001453039 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.