ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.733A>G (p.Met245Val)

gnomAD frequency: 0.00001  dbSNP: rs863224796
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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 RCV000200810 SCV000255135 uncertain significance Hereditary spastic paraplegia 11 2022-09-05 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 sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 216775). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.06%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 245 of the SPG11 protein (p.Met245Val).

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