ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.208C>G (p.Leu70Val)

dbSNP: rs1862011903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066406 SCV001231413 uncertain significance Hereditary pheochromocytoma-paraganglioma 2019-11-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 70 of the SDHAF2 protein (p.Leu70Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant has not been reported in the literature in individuals with SDHAF2-related conditions. 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 (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.

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