ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe) (rs1060503719)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574185 SCV000674994 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000477211 SCV000553895 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2016-08-08 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 663 of the SDHA protein (p.Ser663Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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 C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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