ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.595C>T (p.Arg199Ter)

dbSNP: rs104894855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579176 SCV000680526 pathogenic not provided 2019-11-04 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 29637653, 26633542, 10814714)
Labcorp Genetics (formerly Invitae), Labcorp RCV000692634 SCV000820467 pathogenic Wilms tumor 1 2022-03-12 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: 11689). This premature translational stop signal has been observed in individual(s) with Simpson-Golabi-Behmel syndrome (PMID: 10814714). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg199*) 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).
OMIM RCV000012455 SCV000032689 pathogenic Simpson-Golabi-Behmel syndrome type 1 2000-05-22 no assertion criteria provided literature only

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