ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4114A>G (p.Thr1372Ala) (rs1572934899)

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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 RCV000825868 SCV000967353 uncertain significance not specified 2018-12-14 criteria provided, single submitter clinical testing The p.Thr1372Ala variant in ALMS1 has not been previously reported in individual s with hearing loss or Alstrom syndrome and was absent from large population stu dies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive e nough to determine/rule out pathogenicity.In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.

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