ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.7220C>T (p.Pro2407Leu) (rs1481573722)

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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 RCV000825281 SCV000966573 uncertain significance not specified 2018-06-05 criteria provided, single submitter clinical testing The p.Pro2407Leu variant in ALMS1 has not been previously reported in individual s with Alstrom syndrome or hearing loss. This variant has been identified in 1/1 11554 European chromosomes by the Genome Aggregation Database (gnomAD, http://gn; dbSNP rs1481573722). Although this variant has been see n in the general population, its frequency is not high enough to rule out a path ogenic role. Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Pro2407Leu variant is uncertain. ACMG/AMP Criteria a pplied: PM2.

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