ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)

dbSNP: rs122453121
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000012460 SCV000247492 pathogenic Simpson-Golabi-Behmel syndrome type 1 2015-07-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725910 SCV000340461 pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653751 SCV000775641 pathogenic Wilms tumor 1 2022-04-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 11694). For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.1605C>T. This premature translational stop signal has been observed in individual(s) with Simpson-Golabi-Behmel syndrome (PMID: 17603795, 17850639, 24459012). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg387*) 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).
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000012460 SCV000845298 pathogenic Simpson-Golabi-Behmel syndrome type 1 2018-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000725910 SCV005079753 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24459012, 25525159, 29637653, 33767182, 30667571, 17603795, 29737011)
OMIM RCV000012460 SCV000032694 pathogenic Simpson-Golabi-Behmel syndrome type 1 2007-10-01 no assertion criteria provided literature only

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