ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)

gnomAD frequency: 0.00515  dbSNP: rs28730855
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079939 SCV000290102 benign Alstrom syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000514944 SCV000528961 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445515 SCV000536981 benign Monogenic diabetes 2018-09-07 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.018 + 8 predictors), BP1, BS2 (5 homozygotes in gnomAD), BA1 (1.7% MAF in gnomAD)=Benign
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514944 SCV000609745 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820751 SCV002068743 benign not specified 2018-09-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001079939 SCV002605262 likely benign 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 rs28730855 in Alstrom syndrome yet.
Ambry Genetics RCV002365210 SCV002666445 benign Cardiovascular phenotype 2019-01-14 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001079939 SCV004563445 likely benign Alstrom syndrome 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079939 SCV002082837 benign Alstrom syndrome 2019-12-06 no assertion criteria provided clinical testing

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