ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.2282A>G (p.His761Arg)

gnomAD frequency: 0.00004  dbSNP: rs370377488
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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 RCV001848444 SCV002104717 uncertain significance Hereditary spastic paraplegia 2019-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034761 SCV002115185 uncertain significance Infantile-onset ascending hereditary spastic paralysis 2022-05-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 761 of the ALS2 protein (p.His761Arg). This variant is present in population databases (rs370377488, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALS2-related conditions. 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. 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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