ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) (rs139170018)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710243 SCV000232453 uncertain significance not provided 2017-06-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000195238 SCV000249082 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325682 SCV000461149 benign Emery-Dreifuss muscular dystrophy 4, 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.
Illumina Clinical Services Laboratory,Illumina RCV000382649 SCV000461150 uncertain significance Spinocerebellar ataxia, autosomal recessive 8 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics Inc RCV000710243 SCV000615567 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000542729 SCV000649048 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 5042 of the SYNE1 protein (p.Val5042Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs139170018, ExAC 0.1%). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 28750076) and an infant affected with sudden infant death syndrome (PMID: 28074886). ClinVar contains an entry for this variant (Variation ID: 198681). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710243 SCV001154932 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing

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