ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) (rs746953932)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413922 SCV000491925 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing The I3962L variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I3962L variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I3962L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret I3962L as a variant of uncertain significance.
Invitae RCV000863721 SCV001004430 likely benign Spastic paraplegia 2020-11-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111441 SCV001268998 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.
Natera, Inc. RCV001111441 SCV001453891 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-04-17 no assertion criteria provided clinical testing

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