ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.957C>G (p.Asn319Lys)

gnomAD frequency: 0.00001  dbSNP: rs535845342
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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 RCV001879546 SCV002140694 uncertain significance Gorlin syndrome; Medulloblastoma 2022-07-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1375195). 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. 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. This variant has not been reported in the literature in individuals affected with SUFU-related conditions. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 319 of the SUFU protein (p.Asn319Lys). This variant is present in population databases (rs535845342, gnomAD 0.006%).
Ambry Genetics RCV004946802 SCV005513061 likely benign Hereditary cancer-predisposing syndrome 2024-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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