ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)

gnomAD frequency: 0.00290  dbSNP: rs74463786
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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) RCV000311276 SCV000343082 benign not specified 2016-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001697651 SCV000532144 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000311276 SCV000615540 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557316 SCV000649015 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156801 SCV001318327 likely benign Autosomal recessive ataxia, Beauce type 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001156802 SCV001318328 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-12 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.
Ambry Genetics RCV002518058 SCV003543781 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.11496G>A (p.M3832I) alteration is located in exon 70 (coding exon 69) of the SYNE1 gene. This alteration results from a G to A substitution at nucleotide position 11496, causing the methionine (M) at amino acid position 3832 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001697651 SCV005227905 likely benign not provided criteria provided, single submitter not provided

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