ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8022T>C (p.Phe2674=)

dbSNP: rs34928783
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000512830 SCV000338184 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512830 SCV000608672 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SACS: BP4, BP7
Invitae RCV001085541 SCV001002081 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000512830 SCV001145347 benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111636 SCV001269205 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 RCV001111636 SCV002026606 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848058 SCV002105090 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001111636 SCV001455927 benign Charlevoix-Saguenay spastic ataxia 2020-05-19 no assertion criteria provided clinical testing

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