ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu)

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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 RCV001195364 SCV001365710 uncertain significance not specified 2019-07-19 criteria provided, single submitter clinical testing The p.Lys1245Glu variant in ALMS1 has not been previously reported in individuals with hearing loss or Alstrom syndrome and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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