ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472647 SCV004203066 uncertain significance Gastrointestinal stromal tumor 2023-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779112 SCV004595057 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-10-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDHC-related conditions. 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. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 104 of the SDHC protein (p.Lys104Glu).

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