ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.545A>C (p.His182Pro)

gnomAD frequency: 0.00001  dbSNP: rs1675091136
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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 RCV001346428 SCV001540625 uncertain significance Hereditary spastic paraplegia 31 2023-02-08 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1042469). This variant has not been reported in the literature in individuals affected with REEP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 182 of the REEP1 protein (p.His182Pro).
Ambry Genetics RCV004036489 SCV004937286 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.545A>C (p.H182P) alteration is located in exon 6 (coding exon 6) of the REEP1 gene. This alteration results from a A to C substitution at nucleotide position 545, causing the histidine (H) at amino acid position 182 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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