ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.7444G>A (p.Ala2482Thr) (rs760068474)

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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 RCV000603830 SCV000732039 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Ala2480Thr 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, the Egyptian jerboa, shrew, pika, and Cape golden mole have a threonine (T hr) at this position despite high nearby amino acid conservation. It has also be en identified in 2/23968 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs760068474). ACMG/AMP Criteria applied: BP4_Strong.

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