ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)

gnomAD frequency: 0.00078  dbSNP: rs199874928
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489710 SCV000577107 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001088400 SCV000756169 likely benign Alstrom syndrome 2024-01-28 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001172500 SCV001335553 likely benign Monogenic diabetes 2018-01-26 criteria provided, single submitter research ACMG criteria: PP3 (3 predictors), BP4 (7 predictors), BP1 (missense in gene with truncating cause disease)=likely benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282171 SCV002570871 uncertain significance not specified 2022-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329166 SCV002631323 likely benign Cardiovascular phenotype 2021-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001088400 SCV003928179 uncertain risk allele 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 rs199874928 in Alstrom syndrome yet.
Natera, Inc. RCV001088400 SCV001459607 likely benign Alstrom syndrome 2020-05-02 no assertion criteria provided clinical testing

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