ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.367C>T (p.Arg123Cys)

dbSNP: rs202247756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002453276 SCV002614219 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-20 criteria provided, single submitter clinical testing The p.R123C variant (also known as c.367C>T), located in coding exon 3 of the SUFU gene, results from a C to T substitution at nucleotide position 367. The arginine at codon 123 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration was identified in multiple individuals from one family diagnosed with meningiomas (Aavikko M et al. Am J Hum Genet, 2012 Sep;91:520-6). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
OMIM RCV000030790 SCV000053452 risk factor Familial meningioma 2012-09-07 no assertion criteria provided literature only

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