ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12121C>T (p.Arg4041Cys)

gnomAD frequency: 0.00025  dbSNP: rs146197259
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545176 SCV000648811 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-10-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000545176 SCV001270540 benign Emery-Dreifuss muscular dystrophy 5, 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.
Breakthrough Genomics, Breakthrough Genomics RCV004705661 SCV005212139 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905415 SCV004722137 likely benign SYNE2-related disorder 2019-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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