ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.476C>T (p.Thr159Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694799 SCV000823260 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 159 of the SDHC protein (p.Thr159Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SDHC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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