ClinVar Miner

Submissions for variant NM_001271803.2(REEP2):c.94G>A (p.Val32Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005145952 SCV005777507 uncertain significance Hereditary spastic paraplegia 72 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 32 of the REEP2 protein (p.Val32Met). This variant is present in population databases (rs147103044, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with REEP2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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