ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.329C>T (p.Pro110Leu)

dbSNP: rs776485432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692772 SCV000820614 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 110 of the SDHC protein (p.Pro110Leu). This variant is present in population databases (rs776485432, gnomAD 0.0009%). This missense change has been observed in individual(s) with paraganglioma (PMID: 31666924). ClinVar contains an entry for this variant (Variation ID: 571588). 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 disruptive. 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.
GeneDx RCV001766487 SCV002001022 uncertain significance not provided 2020-08-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with a paraganglioma (Albattal 2019); This variant is associated with the following publications: (PMID: 31666924)

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