ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)

gnomAD frequency: 0.00006  dbSNP: rs768935165
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021386 SCV001182998 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-02 criteria provided, single submitter clinical testing The c.38C>T (p.T13I) alteration is located in exon 1 (coding exon 1) of the SUFU gene. This alteration results from a C to T substitution at nucleotide position 38, causing the threonine (T) at amino acid position 13 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001054304 SCV001218612 uncertain significance Gorlin syndrome; Medulloblastoma 2024-11-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 13 of the SUFU protein (p.Thr13Ile). This variant is present in population databases (rs768935165, gnomAD 0.01%). 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: 824354). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Baylor Genetics RCV003467661 SCV004205661 uncertain significance Familial meningioma 2023-10-27 criteria provided, single submitter clinical testing
GeneDx RCV004773228 SCV005383353 uncertain significance not provided 2024-02-09 criteria provided, single submitter clinical testing 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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004773228 SCV005626202 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing

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