ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.122A>G (p.Tyr41Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003455905 SCV004183560 uncertain significance Hereditary spastic paraplegia 31 2023-12-05 criteria provided, single submitter clinical testing To date, this variant is not listed in population databases (gnomAD v2.1.1) and has not been reported in the literature in individuals with REEP1-related conditions. Computational prediction suggests that this variant may impact protein structure and/or function (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C56"). Based on this evidence, the clinical significance of this alteration remains unclear.

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