ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.5890G>A (p.Glu1964Lys) (rs45484791)

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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 RCV000825277 SCV000966569 uncertain significance not specified 2018-04-10 criteria provided, single submitter clinical testing The p.Glu1964Lys 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 10952 European chromosomes by the Genome Aggregation Database (gnomAD, http://gn; dbSNP rs45484791). Computational prediction tools and c onservation analysis do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of the p.Glu1964Lys variant is uncertain. ACMG/AMP Criteria applied: PM2.

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