ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe) (rs1424809160)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649397 SCV000771225 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2017-10-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 438 of the SDHA protein (p.Cys438Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHA-related disease. 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: "Possibly 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.

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