ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.994C>G (p.Pro332Ala) (rs373509391)

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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 RCV000563954 SCV000674958 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Genetic Services Laboratory, University of Chicago RCV000194437 SCV000248838 uncertain significance not specified 2015-07-14 criteria provided, single submitter clinical testing
Invitae RCV000229794 SCV000288159 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 332 of the SDHA protein (p.Pro332Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs373509391, ExAC 0.03%). This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 212144). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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