ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)

dbSNP: rs1672284859
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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 RCV001953322 SCV002218415 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-02-21 criteria provided, single submitter clinical testing 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: 1443104). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 85 of the SDHC protein (p.Phe85Ser).

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