ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)

dbSNP: rs2102385668
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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 RCV001895358 SCV002153163 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2021-09-15 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with proline at codon 159 of the SDHC protein (p.Thr159Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline.

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