ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)

gnomAD frequency: 0.00131  dbSNP: rs111920492
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710207 SCV000576775 uncertain significance not provided 2023-07-10 criteria provided, single submitter clinical testing Observed with two other SACS variants, phase unknown, in an individual with rigidity, bradykinesia, slow speech production, and abnormal brain MRI in the published literature (Wagner et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23280630, 35008978, 29379980)
Athena Diagnostics RCV000243536 SCV000614977 likely benign not specified 2021-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082626 SCV000629481 likely benign Spastic paraplegia 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112102 SCV001269723 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000710207 SCV001713621 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001112102 SCV002026612 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848029 SCV002105084 uncertain significance Hereditary spastic paraplegia 2021-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710207 SCV004033239 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SACS: BS2
PreventionGenetics, part of Exact Sciences RCV003891946 SCV000312160 likely benign SACS-related disorder 2019-05-21 no assertion criteria provided 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).
Natera, Inc. RCV001112102 SCV001460042 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-10 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710207 SCV001744325 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710207 SCV001968661 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000710207 SCV001979701 uncertain significance not provided no assertion criteria provided clinical testing

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