ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)

gnomAD frequency: 0.00015  dbSNP: rs147667464
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000713598 SCV000338296 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000713598 SCV000589362 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713598 SCV000844223 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing
Invitae RCV000811161 SCV000951414 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 4546 of the SYNE1 protein (p.Asn4546His). This variant is present in population databases (rs147667464, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285328). 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.
CeGaT Center for Human Genetics Tuebingen RCV000713598 SCV001154935 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing SYNE1: PM2, BP4
Illumina Laboratory Services, Illumina RCV001158275 SCV001319895 uncertain significance Autosomal recessive ataxia, Beauce type 2018-01-15 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.
Illumina Laboratory Services, Illumina RCV001158276 SCV001319896 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-15 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.
Revvity Omics, Revvity RCV000713598 SCV003826362 uncertain significance not provided 2020-03-17 criteria provided, single submitter clinical testing

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