ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.49C>A (p.Leu17Ile)

dbSNP: rs1553465460
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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 RCV000557746 SCV000641184 uncertain significance Hereditary spastic paraplegia 31 2017-06-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 17 of the REEP1 protein (p.Leu17Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a REEP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on REEP1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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