ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)

gnomAD frequency: 0.00032  dbSNP: rs189676187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516240 SCV000615731 uncertain significance not specified 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000705421 SCV000834417 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-12-16 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1719 of the SYNE2 protein (p.Met1719Val). This variant is present in population databases (rs189676187, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 448633). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Laboratory Services, Illumina RCV000705421 SCV001271543 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-03-26 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.
Revvity Omics, Revvity RCV000705421 SCV003818262 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-07-15 criteria provided, single submitter clinical testing

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