ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) (rs76872266)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000282202 SCV000334646 likely benign not specified 2015-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269188 SCV000383357 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 RCV001086494 SCV001001451 likely benign Spastic paraplegia 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000861200 SCV001145331 benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000269188 SCV001464169 likely benign Charlevoix-Saguenay spastic ataxia 2020-01-06 no assertion criteria provided clinical testing

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