ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.2875C>A (p.Pro959Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002292240 SCV002584689 uncertain significance Osteopathia striata with cranial sclerosis 2022-07-07 criteria provided, single submitter clinical testing The AMER1 c c.2875C>A (p.Pro959Thr) missense change has a maximum subpopulation frequency of 0.0025% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with osteopathia striata with cranial sclerosis or Wilms tumor. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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