ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.250C>G (p.Leu84Val)

dbSNP: rs942160050
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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 RCV000815996 SCV000956480 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2018-11-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SDHC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 84 of the SDHC protein (p.Leu84Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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