ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)

gnomAD frequency: 0.00804  dbSNP: rs35799469
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224626 SCV000281316 likely benign not provided 2015-05-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079358 SCV000289951 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000251185 SCV000312147 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322346 SCV000383292 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.
Athena Diagnostics RCV000251185 SCV000614934 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000224626 SCV001821146 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000322346 SCV002026560 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847950 SCV002104980 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000322346 SCV002086128 benign Charlevoix-Saguenay spastic ataxia 2019-10-18 no assertion criteria provided clinical testing

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