ClinVar Miner

Submissions for variant NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315481 SCV004015165 uncertain significance Prostate cancer, hereditary, 1 2023-07-07 criteria provided, single submitter clinical testing This variant results in a change from valine to methionine at codon 531. This variant was not identified in the literature nor was it identified in ClinVar or Cosmic. In-silico predictions show Pathogenic computational verdict based on 8 pathogenic predictions from DANN, EIGEN, FATHMM-MKL, M-CAP, MutationAssessor, MutationTaster, PolyPhen and SIFT vs 5 benign predictions from BayesDel_addAF, DEOGEN2, LIST-S2, MVP and PrimateAI. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. Therefore, this variant is classified as a variant of uncertain

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