ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.430T>A (p.Phe144Ile)

gnomAD frequency: 0.00001  dbSNP: rs1404574866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529184 SCV000657575 likely benign Wilms tumor 1 2022-04-24 criteria provided, single submitter clinical testing
GeneDx RCV001770485 SCV001993486 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002527932 SCV003589779 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.430T>A (p.F144I) alteration is located in exon 3 (coding exon 3) of the GPC3 gene. This alteration results from a T to A substitution at nucleotide position 430, causing the phenylalanine (F) at amino acid position 144 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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