ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.316C>G (p.Leu106Val)

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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 RCV002602567 SCV003492768 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-09-11 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. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 2176242). 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 sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 106 of the SDHC protein (p.Leu106Val).
Ambry Genetics RCV004068766 SCV005019538 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-31 criteria provided, single submitter clinical testing The p.L106V variant (also known as c.316C>G), located in coding exon 5 of the SDHC gene, results from a C to G substitution at nucleotide position 316. The leucine at codon 106 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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