ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile) (rs1553404102)

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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 RCV000605426 SCV000713812 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing p.Leu1869Ile in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 11 have an Isoleucine (Ile) at this position despite high nearby amino aci d conservation. In addition, computational prediction tools do not suggest an im pact to the protein. ACMG/AMP Criteria applied: BP4_Strong.

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