ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.1363C>A (p.Leu455Met)

gnomAD frequency: 0.00001  dbSNP: rs1284799258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847491 SCV002104898 uncertain significance Hereditary spastic paraplegia 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543353 SCV002951051 uncertain significance not provided 2023-02-14 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. 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. ClinVar contains an entry for this variant (Variation ID: 1343946). This variant has not been reported in the literature in individuals affected with POLG2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 455 of the POLG2 protein (p.Leu455Met).

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