ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)

gnomAD frequency: 0.00950  dbSNP: rs115970214
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425360 SCV000511071 likely benign not provided 2016-11-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000471401 SCV000557271 benign Hereditary spastic paraplegia 11 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516663 SCV000615422 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000516663 SCV000730087 benign not specified 2018-01-09 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000471401 SCV000743944 benign Hereditary spastic paraplegia 11 2014-10-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000471401 SCV001273771 benign Hereditary spastic paraplegia 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848742 SCV002105749 likely benign Hereditary spastic paraplegia 2020-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467775 SCV002763730 likely benign Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467776 SCV002763731 likely benign Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000471401 SCV002763732 likely benign Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502460 SCV002809599 benign Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2022-03-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000471401 SCV000745904 likely benign Hereditary spastic paraplegia 11 2017-06-02 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000425360 SCV001964224 likely benign not provided no assertion criteria provided clinical testing

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