ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg) (rs1347288383)

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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 RCV000605062 SCV000713815 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing p.Lys3900Arg in exon 18 of ALMS1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 4 have an Arginine (Arg) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest an impa ct to the protein. ACMG/AMP Criteria applied: BP4_Strong.

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