ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1273G>A (p.Val425Met) (rs201822097)

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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 RCV000569607 SCV000664715 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000663187 SCV000786358 uncertain significance Paragangliomas 5 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV000231334 SCV000288105 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-09-30 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 425 of the SDHA protein (p.Val425Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs201822097, ExAC 0.02%). This variant has been reported in an individual affected with pheochromocytoma and paraganglioma (PMID: 23666964). ClinVar contains an entry for this variant (Variation ID: 239642). 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: "Tolerated"; 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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