ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.171G>T (p.Met57Ile)

gnomAD frequency: 0.00001  dbSNP: rs965178548
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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 RCV001543109 SCV001761616 uncertain significance Osteopathia striata with cranial sclerosis 2021-07-22 criteria provided, single submitter clinical testing The AMER1 c.171G>T (p.Met57Ile) missense change is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). Five of seven in silico tools predict a benign effect of this variant on protein function (BP4), but these predictions have 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, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, BP4.

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