ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)

gnomAD frequency: 0.00001  dbSNP: rs781337432
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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 RCV000821924 SCV000962698 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-07-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 663942). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is present in population databases (rs781337432, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2 of the SDHC protein (p.Ala2Gly). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003307554 SCV004000439 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-07 criteria provided, single submitter clinical testing The p.A2G variant (also known as c.5C>G), located in coding exon 1 of the SDHC gene, results from a C to G substitution at nucleotide position 5. The alanine at codon 2 is replaced by glycine, an amino acid with 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.
Baylor Genetics RCV004569766 SCV005056668 uncertain significance Gastrointestinal stromal tumor 2023-11-12 criteria provided, single submitter clinical testing

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