ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10443C>G (p.Leu3481=)

gnomAD frequency: 0.00047  dbSNP: rs144087359
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361442 SCV000383310 uncertain significance Charlevoix-Saguenay spastic ataxia 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862081 SCV001002525 likely benign Spastic paraplegia 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288370 SCV001475435 likely benign not provided 2019-09-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000361442 SCV002026580 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848097 SCV002104956 uncertain significance Hereditary spastic paraplegia 2018-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001288370 SCV004136799 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing SACS: BP4, BP7
Natera, Inc. RCV000361442 SCV001455914 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723893 SCV001956110 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001288370 SCV001963820 likely benign not provided no assertion criteria provided clinical testing

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