ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1306G>C (p.Glu436Gln) (rs200740468)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174618 SCV001337822 uncertain significance not specified 2020-01-17 criteria provided, single submitter clinical testing Variant summary: MET c.1306G>C (p.Glu436Gln) results in a conservative amino acid change located in the Sema domain of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 249442 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1306G>C has not been reported in the literature in individuals affected with Papillary Renal Cell Carcinoma. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034522 SCV000043305 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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