ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5796T>C (p.His1932=)

gnomAD frequency: 0.00019  dbSNP: rs375350193
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865368 SCV001006321 likely benign Hereditary spastic paraplegia 11 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000865368 SCV001275369 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.
Athena Diagnostics Inc RCV001664499 SCV001880690 likely benign not specified 2021-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396503 SCV004136517 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SPG11: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003965694 SCV004783684 likely benign SPG11-related condition 2021-12-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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