ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)

gnomAD frequency: 0.00001  dbSNP: rs761291489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848736 SCV002105243 uncertain significance Hereditary spastic paraplegia 2021-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865302 SCV002133511 uncertain significance Infantile-onset ascending hereditary spastic paralysis 2022-04-07 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 374111). This variant has not been reported in the literature in individuals affected with ALS2-related conditions. This variant is present in population databases (rs761291489, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1341 of the ALS2 protein (p.Arg1341His).
Mayo Clinic Laboratories, Mayo Clinic RCV004791442 SCV005408983 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing PM2
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415216 SCV000492877 likely pathogenic Peripheral axonal neuropathy 2015-03-12 flagged submission clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198494 SCV001369449 likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile 2016-01-01 flagged submission clinical testing This variant was classified as: Likely pathogenic.

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