ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.39G>T (p.Leu13Phe) (rs201745731)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227644 SCV000287772 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2016-01-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 13 of the SDHB protein (p.Leu13Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine 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 SDHB-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies. The phenylalanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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