ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.166A>G (p.Ile56Val)

dbSNP: rs1363555121
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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 RCV001360503 SCV001556424 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2021-12-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 56 of the SDHC protein (p.Ile56Val). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SDHC protein function. ClinVar contains an entry for this variant (Variation ID: 1052342).
Sema4, Sema4 RCV002255651 SCV002527101 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-20 criteria provided, single submitter curation

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