ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464660 SCV004205695 uncertain significance Familial meningioma 2023-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004673897 SCV005166127 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-18 criteria provided, single submitter clinical testing The p.P20R variant (also known as c.59C>G), located in coding exon 1 of the SUFU gene, results from a C to G substitution at nucleotide position 59. The proline at codon 20 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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