ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10873T>C (p.Ser3625Pro) (rs1573030477)

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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 RCV000825865 SCV000967350 uncertain significance not specified 2018-12-27 criteria provided, single submitter clinical testing The p.Ser3625Pro variant in ALMS1 has not been previously reported in individual s with hearing loss or Alstrom syndrome and was absent from large population dat abases. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser3625Pro variant is uncertain. ACMG/AMP Criteria applie d: PM2.

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