ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)

gnomAD frequency: 0.00004  dbSNP: rs377657177
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232996 SCV000289963 likely benign Spastic paraplegia 2024-01-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295984 SCV000383317 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.
Genome-Nilou Lab RCV000295984 SCV002026497 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518350 SCV003748341 uncertain significance Inborn genetic diseases 2021-03-26 criteria provided, single submitter clinical testing The c.9031A>G (p.I3011V) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 9031, causing the isoleucine (I) at amino acid position 3011 to be replaced by a valine (V). The p.I3011V alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004725115 SCV005332508 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000295984 SCV002086202 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-07-08 no assertion criteria provided clinical testing

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