ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1005C>T (p.Leu335=)

gnomAD frequency: 0.00001  dbSNP: rs575246362
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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 RCV000536560 SCV000623094 likely benign Gorlin syndrome; Medulloblastoma 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413425 SCV002721069 likely benign Hereditary cancer-predisposing syndrome 2021-06-08 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000108 SCV005626190 uncertain significance not provided 2024-10-11 criteria provided, single submitter clinical testing The SUFU c.1005C>T (p.Leu335=) synonymous variant has not been reported in individuals with SUFU-related conditions in the published literature. The frequency of this variant in the general population, 0.000026 (3/113592 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect SUFU mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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