ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.334C>G (p.Leu112Val)

gnomAD frequency: 0.00001  dbSNP: rs1329297940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821130 SCV000961874 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-03-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 663279). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 112 of the SDHC protein (p.Leu112Val). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae).

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