ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.256C>T (p.Arg86Ter)

dbSNP: rs2076400520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204028 SCV001375214 pathogenic Wilms tumor 1 2023-08-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 935437). This premature translational stop signal has been observed in individuals with Simpson-Golabi-Behmel syndrome (PMID: 17603795, 20683991, 20950395). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg86*) in the GPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10402475, 12713262, 17603795).
Ambry Genetics RCV001265782 SCV001443952 pathogenic Inborn genetic diseases 2017-12-18 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543562 SCV001762222 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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