ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)

dbSNP: rs1060501110
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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 RCV001217743 SCV001389595 uncertain significance Gorlin syndrome; Medulloblastoma 2019-04-26 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 232 of the SUFU protein (p.Pro232Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SUFU-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002365984 SCV002664358 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-07 criteria provided, single submitter clinical testing The p.P232A variant (also known as c.694C>G), located in coding exon 6 of the SUFU gene, results from a C to G substitution at nucleotide position 694. The proline at codon 232 is replaced by alanine, an amino acid with highly 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 RCV003469370 SCV004205705 uncertain significance Familial meningioma 2023-05-05 criteria provided, single submitter clinical testing

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