ClinVar Miner

Submissions for variant NM_004484.3(GPC3):c.1500T>C (p.Asp500=) (rs2314298)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250645 SCV000310401 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000473514 SCV000559610 benign Wilms tumor 1 2017-08-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590033 SCV000698456 benign not provided 2016-05-05 criteria provided, single submitter clinical testing Variant summary: The GPC3 variant, c.1500T>C (p.Asp500Asp) causes a synonymous change involving a non-conserved nucleotide with / in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2082/87736 (1/42, 182 homozygotes, 453 hemizygotes), which significantly exceeds the estimated maximum expected allele frequency for a pathogenic GPC3 variant of 1/10000000. The variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Ambry Genetics RCV000716284 SCV000847124 benign History of neurodevelopmental disorder 2015-10-12 criteria provided, single submitter clinical testing

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