ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.35T>C (p.Leu12Pro)

dbSNP: rs1590759677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824143 SCV000965029 uncertain significance Hereditary pheochromocytoma-paraganglioma 2021-09-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 tolerated. This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. This sequence change replaces leucine with proline at codon 12 of the SDHAF2 protein (p.Leu12Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline.
Ambry Genetics RCV002453904 SCV002614944 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-04 criteria provided, single submitter clinical testing The p.L12P variant (also known as c.35T>C), located in coding exon 1 of the SDHAF2 gene, results from a T to C substitution at nucleotide position 35. The leucine at codon 12 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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