ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.211C>T (p.His71Tyr)

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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 RCV002623060 SCV002976002 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 71 of the SDHC protein (p.His71Tyr). 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: 1935251). 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.
All of Us Research Program, National Institutes of Health RCV004007519 SCV004828395 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-06-28 criteria provided, single submitter clinical testing

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