ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.9874T>C (p.Ser3292Pro) (rs759591871)

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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 RCV000825280 SCV000966572 uncertain significance not specified 2018-05-16 criteria provided, single submitter clinical testing The p.Ser3292Pro variant in ALMS1 has not been previously reported in individual s with Alstrom syndrome or hearing loss. This variant has been identified in 6/1 11516 European chromosomes by the Genome Aggregation Database (gnomAD, http://gn omad.broadinstitute.org; dbSNP rs759591871). Although this variant has been seen in the general population, its frequency is not high enough to rule out a patho genic role. Computational prediction tools and conservation analysis suggest tha t the p.Ser3292Pro variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. In summary, the clinical signifi cance of the p.Ser3292Pro variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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