ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.164A>G (p.His55Arg)

dbSNP: rs878854585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227923 SCV000287795 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 55 of the SDHC protein (p.His55Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with head and neck paraganglioma (PMID: 30877234, 31666924). ClinVar contains an entry for this variant (Variation ID: 239449). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001770197 SCV002002924 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30877234, 31666924)
Ambry Genetics RCV002392696 SCV002704050 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-24 criteria provided, single submitter clinical testing The p.H55R variant (also known as c.164A>G), located in coding exon 3 of the SDHC gene, results from an A to G substitution at nucleotide position 164. The histidine at codon 55 is replaced by arginine, an amino acid with highly similar 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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