ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)

gnomAD frequency: 0.00170  dbSNP: rs117360770
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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) RCV000179213 SCV000231423 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349953 SCV000461361 uncertain significance Autosomal recessive ataxia, Beauce type 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.
Illumina Laboratory Services, Illumina RCV000388054 SCV000461362 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000713694 SCV000523963 likely benign not provided 2020-07-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24082139, 25976027, 28798025)
Invitae RCV001089269 SCV000649226 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713694 SCV000844321 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000713694 SCV000884633 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713694 SCV001154946 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SYNE1: BP4

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