ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)

gnomAD frequency: 0.00042  dbSNP: rs201176149
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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) RCV000329476 SCV000336410 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001089176 SCV000387321 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089176 SCV000648805 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021146 SCV003583700 uncertain significance not specified 2021-08-02 criteria provided, single submitter clinical testing The c.1154A>G (p.N385S) alteration is located in exon 12 (coding exon 11) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 1154, causing the asparagine (N) at amino acid position 385 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001089176 SCV003820851 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-11-14 criteria provided, single submitter clinical testing

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