ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)

dbSNP: rs1571890337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000994159 SCV001992600 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002549853 SCV003484892 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-08-19 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. ClinVar contains an entry for this variant (Variation ID: 806263). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 117 of the SDHC protein (p.Lys117Arg).
Ambry Genetics RCV004030168 SCV005019539 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-23 criteria provided, single submitter clinical testing The p.K117R variant (also known as c.350A>G), located in coding exon 5 of the SDHC gene, results from an A to G substitution at nucleotide position 350. The lysine at codon 117 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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