ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195323 SCV001365666 likely benign not specified 2019-09-25 criteria provided, single submitter clinical testing The p.Val3855Met variant in ALMS1 is classified as likely benign due to a lack of conservation across species. Over 10 mammals carry a methionine (Met) at this position despite high nearby amino acid conservation. ACMG/AMP Criteria applied: BP4_Strong.

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