ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)

gnomAD frequency: 0.01282  dbSNP: rs3759873
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000476292 SCV000391306 benign Hereditary spastic paraplegia 11 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000118402 SCV000519887 benign not specified 2016-05-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000476292 SCV000557266 benign Hereditary spastic paraplegia 11 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000476292 SCV000677505 benign Hereditary spastic paraplegia 11 2017-05-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000118402 SCV002051013 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847725 SCV002105659 benign Hereditary spastic paraplegia 2021-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467569 SCV002764148 likely benign Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467570 SCV002764149 likely benign Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000476292 SCV002764152 likely benign Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118402 SCV000152802 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000118402 SCV001807955 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000118402 SCV001926716 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723682 SCV001951612 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000118402 SCV002034566 benign not specified no assertion criteria provided clinical testing

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