ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)

gnomAD frequency: 0.00001  dbSNP: rs1553999043
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649398 SCV000771226 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2018-08-02 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 539633). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 339 of the SDHA protein (p.Ser339Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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