ClinVar Miner

Submissions for variant NC_000016.10:g.31464785_31464789GGCGC[3]

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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 RCV000825504 SCV000966808 likely pathogenic Acth-independent macronodular adrenal hyperplasia 2 2018-10-22 criteria provided, single submitter clinical testing The p.Leu591ArgfsX41 variant in ARMC5 has not been previously reported in affect ed individuals and was absent from large population studies (gnomAD, http://gnom ad.broadinstitute.org). This variant is predicted to cause a frameshift, which a lters the protein?s amino acid sequence beginning at position 591 and leads to a premature termination codon 41 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the ARMC 5 gene is an established disease mechanism in autosomal dominant primary macrono dular adrenal hyperplasia. In summary, although additional studies are required to fully establish its clinical significance, the p.Leu591ArgfsX41 variant is li kely pathogenic. ACMG/AMP Criteria applied: PVS1, PM2.

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