ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg)

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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 RCV001195362 SCV001365708 uncertain significance not specified 2019-05-22 criteria provided, single submitter clinical testing The p.Pro3354Arg variant in ALMS1 has not been previously reported in individuals with hearing loss or Alstrom syndrome but has been identified in 0.01% (2/17960) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). 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_Supporting.

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