ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10008A>G (p.Lys3336=)

gnomAD frequency: 0.00031  dbSNP: rs148971954
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862514 SCV001003028 likely benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111538 SCV001269102 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.
Baylor Genetics RCV001111538 SCV001528855 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-07-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001593072 SCV001822377 likely benign not provided 2018-09-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001664493 SCV001880396 likely benign not specified 2020-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001111538 SCV002026589 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001111538 SCV001455918 likely benign Charlevoix-Saguenay spastic ataxia 2020-05-19 no assertion criteria provided clinical testing

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