ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.224G>A (p.Gly75Asp) (rs786205147)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564191 SCV000675104 likely pathogenic Hereditary cancer-predisposing syndrome 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000688261 SCV000815866 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 75 of the SDHC protein (p.Gly75Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with paraganglioma and chondroma (PMID: 26173966, 19351833). ClinVar contains an entry for this variant (Variation ID: 189841). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development RCV000170332 SCV000222641 likely pathogenic Carney triad no assertion criteria provided clinical testing

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