ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)

gnomAD frequency: 0.00001  dbSNP: rs765072095
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054003 SCV001218294 likely benign Wilms tumor 1 2023-11-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV001294010 SCV001482761 uncertain significance Simpson-Golabi-Behmel syndrome type 1 2020-12-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002259073 SCV002537465 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-12 criteria provided, single submitter curation
Ambry Genetics RCV002553330 SCV003749994 uncertain significance Inborn genetic diseases 2021-05-27 criteria provided, single submitter clinical testing The c.797A>G (p.Q266R) alteration is located in exon 3 (coding exon 3) of the GPC3 gene. This alteration results from a A to G substitution at nucleotide position 797, causing the glutamine (Q) at amino acid position 266 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994199 SCV004814030 uncertain significance not specified 2024-02-27 criteria provided, single submitter clinical testing Variant summary: GPC3 c.797A>G (p.Gln266Arg) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.3e-05 in 183133 control chromosomes, including 2 hemizygotes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.797A>G in individuals affected with Simpson-Golabi-Behmel Syndrome, Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 849942). Based on the evidence outlined above, the variant was classified as uncertain significance.

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