ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1224C>T (p.Asp408=)

gnomAD frequency: 0.00004  dbSNP: rs2274386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296723 SCV000383380 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.
Invitae RCV001079181 SCV001003072 benign Spastic paraplegia 2024-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000862553 SCV001145313 benign not provided 2019-05-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000296723 SCV002026687 benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000296723 SCV002086742 likely benign Charlevoix-Saguenay spastic ataxia 2020-02-13 no assertion criteria provided clinical testing

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