ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)

gnomAD frequency: 0.00147  dbSNP: rs139334167
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083164 SCV000219040 benign Hereditary spastic paraplegia 11 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000710226 SCV000345786 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710226 SCV000615423 likely benign not provided 2018-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000710226 SCV000730588 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25174650, 29525178)
Illumina Laboratory Services, Illumina RCV001083164 SCV001277055 uncertain significance 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, 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 RCV000710226 SCV001500669 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SPG11: BS1
Mayo Clinic Laboratories, Mayo Clinic RCV000710226 SCV001713692 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847796 SCV002105776 likely benign Hereditary spastic paraplegia 2021-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362862 SCV002663012 likely benign Inborn genetic diseases 2021-06-25 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.

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