ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) (rs11889925)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082986 SCV000262085 benign Alstrom syndrome 2020-12-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224355 SCV000280857 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000424132 SCV000532582 benign not specified 2016-10-11 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 RCV000445509 SCV000536961 benign Monogenic diabetes 2019-02-08 criteria provided, single submitter research ACMG criteria: BA1 (5.6% in gnomAD African), BS2 (46 homozygotes in gnomAD), BP1 (most ALMS1 pathogenic variants are truncating) REVEL score 0.2 + PP3 (4 predictors) + BP4 (5 predictors)= conflicting evidence, not using)= benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424132 SCV000864084 benign not specified 2016-02-15 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.671C>A (alternative name c.674C>A) affects a conserved nucleotide, resulting in amino acid change from Pro to His. 3/4 in-silico tools predict this variant to be damaging (SNPs&GO not captured due to low reliability index), however, these predictions have not been validated through in vitro/vivo functional studies yet. This variant was found in 658/122504 control chromosomes from ExAC dataset at a frequency of 0.0053713, predominantly in individuals of African descent (0.05675) including 18 homozygotes. This frequency exceeds the maximal expected frequency of a pathogenic allele (0.0022361), suggesting this variant is benign ethnic-specific polymorphism. This variant, to our knowledge, has not been reported in affected individuals via publications. One clinical laboratory (via ClinVar) classified this variant as benign, without evidence to independently evaluate. Taken together, this variant was classified as benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000424132 SCV000967040 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro224His in exon 4 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 5.67% (556/9798) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs11889925).
Athena Diagnostics Inc RCV000224355 SCV001143005 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082986 SCV001457869 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224355 SCV001799888 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000424132 SCV001929735 benign not specified 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.