ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)

gnomAD frequency: 0.00297  dbSNP: rs28730858
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226104 SCV000290061 benign Alstrom syndrome 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594767 SCV000707354 likely benign not specified 2017-05-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000594767 SCV000711803 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val3487Val in exon 16 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.88% (86/9770) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs28730858).
GeneDx RCV001705275 SCV000714603 benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000594767 SCV001437318 likely benign not specified 2020-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002401900 SCV002707754 likely benign Cardiovascular phenotype 2019-01-02 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 Genetics, Academic Medical Center RCV000594767 SCV001918830 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000594767 SCV001930719 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705275 SCV001980541 likely benign not provided no assertion criteria provided clinical testing

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