ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1381G>A (p.Glu461Lys)

dbSNP: rs2063824160
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002381177 SCV002699836 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter clinical testing The p.E461K variant (also known as c.1381G>A), located in coding exon 12 of the SUFU gene, results from a G to A substitution at nucleotide position 1381. The glutamic acid at codon 461 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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