ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) (rs111920492)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243536 SCV000312160 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000710207 SCV000576775 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing The A2510T variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A2510T variant is observed in 127/66710 (0.19%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The A2510T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other 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. We interpret A2510T as a variant of uncertain significance.
Athena Diagnostics Inc RCV000710207 SCV000614977 likely benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Invitae RCV001082626 SCV000629481 likely benign Spastic paraplegia 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112102 SCV001269723 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000710207 SCV001713621 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001112102 SCV001460042 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-10 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710207 SCV001744325 uncertain significance not provided no assertion criteria provided clinical testing

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