ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.287T>C (p.Leu96Pro)

dbSNP: rs1553461473
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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 RCV000641684 SCV000763331 uncertain significance Hereditary spastic paraplegia 31 2021-12-21 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 534215). This missense change has been observed in individual(s) with hereditary spastic paraplegia (PMID: 28362824). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 96 of the REEP1 protein (p.Leu96Pro).
Ambry Genetics RCV003162889 SCV003887524 uncertain significance Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.287T>C (p.L96P) alteration is located in exon 4 (coding exon 4) of the REEP1 gene. This alteration results from a T to C substitution at nucleotide position 287, causing the leucine (L) at amino acid position 96 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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