ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)

dbSNP: rs1672292051
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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 RCV001321576 SCV001512412 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2021-11-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 120 of the SDHC protein (p.Leu120Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1021759). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003166865 SCV003858662 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-16 criteria provided, single submitter clinical testing The p.L120R variant (also known as c.359T>G), located in coding exon 5 of the SDHC gene, results from a T to G substitution at nucleotide position 359. The leucine at codon 120 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004803635 SCV005424100 uncertain significance Hereditary pheochromocytoma-paraganglioma 2024-03-05 criteria provided, single submitter clinical testing

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