ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met)

dbSNP: rs1671903375
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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, Mass General Brigham Personalized Medicine RCV001195361 SCV001365707 uncertain significance not specified 2019-05-02 criteria provided, single submitter clinical testing The p.Lys1245Met 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 analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.

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