ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)

gnomAD frequency: 0.00168  dbSNP: rs147317123
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000329092 SCV000339985 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327882 SCV000383312 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.
Athena Diagnostics RCV000329092 SCV000614920 benign not specified 2019-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082514 SCV001003167 likely benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000327882 SCV002026584 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000327882 SCV001455915 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-12-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003967757 SCV004780822 likely benign SACS-related disorder 2022-05-31 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).

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