ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1106T>C (p.Val369Ala)

dbSNP: rs1554854584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628503 SCV000749405 uncertain significance Gorlin syndrome; Medulloblastoma 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 369 of the SUFU protein (p.Val369Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. 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 disruptive. 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 RCV002431842 SCV002744546 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-05 criteria provided, single submitter clinical testing The p.V369A variant (also known as c.1106T>C), located in coding exon 9 of the SUFU gene, results from a T to C substitution at nucleotide position 1106. The valine at codon 369 is replaced by alanine, 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.

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