ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) (rs111475461)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128202 SCV000171794 benign not specified 2014-04-08 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 RCV000989665 SCV000259517 benign Hereditary spastic paraplegia 7 2019-12-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000128202 SCV000309380 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000989665 SCV000399752 uncertain significance Hereditary spastic paraplegia 7 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 Praxis fuer Humangenetik Tuebingen RCV000585517 SCV000692882 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128202 SCV000709275 benign not specified 2017-06-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000585517 SCV000844094 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Mendelics RCV000989665 SCV001140197 benign Hereditary spastic paraplegia 7 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000989665 SCV001159221 benign Hereditary spastic paraplegia 7 2019-05-22 criteria provided, single submitter clinical testing

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