ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val) (rs371904071)

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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 RCV000604961 SCV000713732 likely benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Met2707Val in exon 10 of ALMS1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 6 mammals have a valine (Val) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been identified in 1/11168 6 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs371904071). ACMG/AMP Criteria applied: BP4_Strong.

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