ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)

dbSNP: rs1294873008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811379 SCV000951641 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-08-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 15 of the SDHC protein (p.Arg15Gln). This variant is present in population databases (no rsID available, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 655251). 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 tolerated. 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 RCV001022590 SCV001184344 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-16 criteria provided, single submitter clinical testing The p.R15Q variant (also known as c.44G>A), located in coding exon 2 of the SDHC gene, results from a G to A substitution at nucleotide position 44. The arginine at codon 15 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004001730 SCV004843083 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-11-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569671 SCV005056662 uncertain significance Gastrointestinal stromal tumor 2024-01-09 criteria provided, single submitter clinical testing

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