ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)

dbSNP: rs1571851599
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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 RCV000794414 SCV000933819 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-06-29 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. 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. ClinVar contains an entry for this variant (Variation ID: 641223). 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 glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 47 of the SDHC protein (p.Gly47Ala).
Ambry Genetics RCV004659205 SCV005161249 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-12 criteria provided, single submitter clinical testing The p.G47A variant (also known as c.140G>C), located in coding exon 3 of the SDHC gene, results from a G to C substitution at nucleotide position 140. The glycine at codon 47 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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