ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)

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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 RCV003801143 SCV004596789 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-04-20 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 disruptive. 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 alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 3 of the SDHC protein (p.Ala3Pro).
Ambry Genetics RCV004661781 SCV005161252 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-21 criteria provided, single submitter clinical testing The p.A3P variant (also known as c.7G>C), located in coding exon 1 of the SDHC gene, results from a G to C substitution at nucleotide position 7. The alanine at codon 3 is replaced by proline, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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