ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)

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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 RCV001195322 SCV001365665 likely benign not specified 2019-08-27 criteria provided, single submitter clinical testing The p.Ser1571Phe variant in ALMS1 is classified as likely benign due to a lack of conservation across species. Six mammals (gibbon, bushbaby, Guinea pig, chinchilla, brush-tailed rat, black flying fox) carry a phenylalanine (Phe) at this position despite high nearby amino acid conservation. This variant has been identified in 0.006% (2/34490) of Latino chromosomes by gnomAD ( ACMG/AMP Criteria applied: BP4_Strong.

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