ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)

dbSNP: rs1227379293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707040 SCV000836120 uncertain significance Gorlin syndrome; Medulloblastoma 2023-04-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 582859). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 11 of the SUFU protein (p.Gly11Asp).
Ambry Genetics RCV002458322 SCV002612008 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The p.G11D variant (also known as c.32G>A), located in coding exon 1 of the SUFU gene, results from a G to A substitution at nucleotide position 32. The glycine at codon 11 is replaced by aspartic acid, 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.
GeneDx RCV004768598 SCV005379687 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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