ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)

dbSNP: rs1558185932
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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 RCV000694289 SCV000822726 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 152 of the SDHC protein (p.Gly152Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SDHC-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 572810). 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 with a positive predictive value of 80%. 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.
Ambry Genetics RCV002332445 SCV002634251 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-18 criteria provided, single submitter clinical testing The p.G152R variant (also known as c.454G>A), located in coding exon 6 of the SDHC gene, results from a G to A substitution at nucleotide position 454. The glycine at codon 152 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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