ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8901T>A (p.Leu2967=) (rs1572970207)

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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 RCV000825278 SCV000966570 uncertain significance not specified 2018-05-10 criteria provided, single submitter clinical testing The p.Leu2967Leu variant in ALMS1 has not been previously reported in individual s with Alstrom syndrome or hearing loss, and was absent from large population st udies. Computational tools suggest that this variant might cause a 3' cryptic s plice site. However, this information is not predictive enough to determine path ogenicity. In summary, the clinical significance of the p.Leu2967Leu variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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