ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.11T>C (p.Leu4Pro) (rs774299337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411462 SCV000487979 uncertain significance Paragangliomas 3 2015-12-07 criteria provided, single submitter clinical testing
Invitae RCV000547937 SCV000641424 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 4 of the SDHC protein (p.Leu4Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs774299337, ExAC 0.003%). This variant has not been reported in the literature in individuals with SDHC-related disease. ClinVar contains an entry for this variant (Variation ID: 371802). 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"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759341 SCV000888617 uncertain significance not provided 2018-08-05 criteria provided, single submitter clinical testing

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