ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)

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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 RCV002949594 SCV003286978 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 451 of the ATP13A2 protein (p.Arg451Trp). This variant is present in population databases (rs139065780, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2072551). 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.

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