ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)

gnomAD frequency: 0.00016  dbSNP: rs139679692
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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) RCV000713650 SCV000338354 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Invitae RCV000524861 SCV000649147 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 8400 of the SYNE1 protein (p.Asp8400Asn). This variant is present in population databases (rs139679692, gnomAD 0.05%). 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: 285365). 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.
Athena Diagnostics Inc RCV000713650 SCV000844277 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001642887 SCV001519253 benign Spastic ataxia 2021-07-12 criteria provided, single submitter research
Baylor Genetics RCV001335277 SCV001528388 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-11-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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