ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) (rs36061856)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193480 SCV000248780 uncertain significance not specified 2014-09-17 criteria provided, single submitter clinical testing
Invitae RCV001079338 SCV000289948 likely benign Spastic paraplegia 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278445 SCV000383303 uncertain significance Charlevoix-Saguenay spastic ataxia 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 RCV000230933 SCV000614927 benign not provided 2019-06-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000230933 SCV001334477 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000278445 SCV001736762 likely benign Charlevoix-Saguenay spastic ataxia 2021-05-18 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000278445 SCV001806292 likely benign Charlevoix-Saguenay spastic ataxia 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000278445 SCV001455911 likely benign Charlevoix-Saguenay spastic ataxia 2020-04-17 no assertion criteria provided clinical testing

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