ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.355G>T (p.Val119Leu)

dbSNP: rs1676309660
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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 RCV001214308 SCV001385983 uncertain significance Hereditary spastic paraplegia 31 2019-05-10 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 119 of the REEP1 protein (p.Val119Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with REEP1-related conditions. 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 and their clinical significance is uncertain. 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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