ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=)

gnomAD frequency: 0.00001  dbSNP: rs1217540541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614430 SCV000722196 likely benign not specified 2017-08-30 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614430 SCV001365664 likely benign not specified 2019-07-24 criteria provided, single submitter clinical testing The p.Ser3298Ser variant in ALMS1 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV001482808 SCV001687186 likely benign Alstrom syndrome 2023-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384347 SCV002690992 likely benign Cardiovascular phenotype 2020-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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