ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.583G>A (p.Ala195Thr)

dbSNP: rs757800031
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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 RCV001313970 SCV001504481 uncertain significance Hereditary spastic paraplegia 31 2024-09-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 195 of the REEP1 protein (p.Ala195Thr). This variant is present in population databases (rs757800031, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with REEP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015146). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004960746 SCV005487054 uncertain significance Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing The c.583G>A (p.A195T) alteration is located in exon 6 (coding exon 6) of the REEP1 gene. This alteration results from a G to A substitution at nucleotide position 583, causing the alanine (A) at amino acid position 195 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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