ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)

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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 RCV003116169 SCV003789361 uncertain significance not provided 2023-09-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 3931 of the FAT2 protein (p.Thr3931Met). This variant is present in population databases (rs140427755, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2421867). 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.
Revvity Omics, Revvity RCV003143587 SCV003833959 uncertain significance Spinocerebellar ataxia 45 2022-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004245933 SCV004069628 uncertain significance not specified 2023-06-22 criteria provided, single submitter clinical testing The c.11792C>T (p.T3931M) alteration is located in exon 20 (coding exon 20) of the FAT2 gene. This alteration results from a C to T substitution at nucleotide position 11792, causing the threonine (T) at amino acid position 3931 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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