ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)

gnomAD frequency: 0.00004  dbSNP: rs376680832
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080973 SCV001003674 benign Spastic paraplegia 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000863078 SCV001145337 benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115156 SCV001273109 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001115156 SCV002026637 benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849165 SCV002105059 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000863078 SCV004136809 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SACS: BS2
PreventionGenetics, part of Exact Sciences RCV003955596 SCV004771359 likely benign SACS-related disorder 2019-12-09 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).
Natera, Inc. RCV001115156 SCV002086256 likely benign Charlevoix-Saguenay spastic ataxia 2020-02-11 no assertion criteria provided clinical testing

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