ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile)

gnomAD frequency: 0.00086  dbSNP: rs148582250
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000303987 SCV000334586 likely benign not specified 2015-09-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000535359 SCV000387507 benign Emery-Dreifuss muscular dystrophy 5, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000535359 SCV000648836 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000303987 SCV003683108 uncertain significance not specified 2023-12-22 criteria provided, single submitter clinical testing The c.13850C>T (p.T4617I) alteration is located in exon 73 (coding exon 72) of the SYNE2 gene. This alteration results from a C to T substitution at nucleotide position 13850, causing the threonine (T) at amino acid position 4617 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 RCV004703573 SCV005212148 likely benign not provided criteria provided, single submitter not provided

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