ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)

gnomAD frequency: 0.00002  dbSNP: rs376797758
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693042 SCV000820896 uncertain significance Gorlin syndrome; Medulloblastoma 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 310 of the SUFU protein (p.Glu310Lys). This variant is present in population databases (rs376797758, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. ClinVar contains an entry for this variant (Variation ID: 571806). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SUFU protein function. 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.
Ambry Genetics RCV002369869 SCV002684396 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-19 criteria provided, single submitter clinical testing The p.E310K variant (also known as c.928G>A), located in coding exon 8 of the SUFU gene, results from a G to A substitution at nucleotide position 928. The glutamic acid at codon 310 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Baylor Genetics RCV003459691 SCV004205697 uncertain significance Familial meningioma 2024-03-21 criteria provided, single submitter clinical testing
GeneDx RCV004768573 SCV005380059 uncertain significance not provided 2023-12-17 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; This variant is associated with the following publications: (PMID: 24311597)
Fulgent Genetics, Fulgent Genetics RCV005027860 SCV005660533 uncertain significance Medulloblastoma; Familial meningioma; Joubert syndrome 32; Basal cell nevus syndrome 2 2024-04-23 criteria provided, single submitter clinical testing

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