ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.278G>A (p.Arg93His)

dbSNP: rs149254262
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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 RCV001984524 SCV002216224 uncertain significance Hereditary spastic paraplegia 11 2024-08-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 93 of the SPG11 protein (p.Arg93His). This variant is present in population databases (rs149254262, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1434058). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV003136336 SCV003820042 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing

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