ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.384A>G (p.Thr128=)

dbSNP: rs1671018024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195440 SCV001365809 likely benign not specified 2020-04-02 criteria provided, single submitter clinical testing The p.Thr128Thr 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.
PreventionGenetics, part of Exact Sciences RCV003908440 SCV004726791 likely benign ALMS1-related condition 2024-02-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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