ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.662del (p.Lys221fs)

dbSNP: rs2124480362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001970089 SCV002234410 pathogenic Wilms tumor 1 2021-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Simpson-Golabi-Behmel syndrome (PMID: 24357529). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys221Serfs*13) 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).

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