ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)

gnomAD frequency: 0.00001  dbSNP: rs1161002093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641922 SCV000763572 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 120 of the SDHC protein (p.Leu120Phe). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 534377). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Sema4, Sema4 RCV002256432 SCV002527111 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-24 criteria provided, single submitter curation
Ambry Genetics RCV002256432 SCV002619307 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing The p.L120F variant (also known as c.358C>T), located in coding exon 5 of the SDHC gene, results from a C to T substitution at nucleotide position 358. The leucine at codon 120 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568422 SCV005056658 uncertain significance Gastrointestinal stromal tumor 2024-02-25 criteria provided, single submitter clinical testing

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