ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.374T>C (p.Met125Thr)

dbSNP: rs1060501387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471316 SCV000546025 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-07-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 407048). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 125 of the SDHC protein (p.Met125Thr).

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