ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4744-6T>C

gnomAD frequency: 0.00153  dbSNP: rs147550048
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000513183 SCV000333621 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086542 SCV000391280 uncertain significance Hereditary spastic paraplegia 11 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000513183 SCV000608716 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SPG11: BP4
Invitae RCV001086542 SCV000642242 likely benign Hereditary spastic paraplegia 11 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000513183 SCV000717665 likely benign not provided 2021-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513183 SCV000844022 likely benign not provided 2017-10-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848049 SCV002105723 likely benign Hereditary spastic paraplegia 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338823 SCV002639356 likely benign Inborn genetic diseases 2019-10-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000513183 SCV001808437 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000513183 SCV001928932 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513183 SCV001966033 likely benign not provided no assertion criteria provided clinical testing

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