ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser)

dbSNP: rs201685248
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726432 SCV000344586 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000387198 SCV000615595 uncertain significance not specified 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV001232875 SCV001405447 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 6149 of the SYNE1 protein (p.Arg6149Ser). This variant is present in population databases (rs201685248, gnomAD 0.05%). This missense change has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 34602496). ClinVar contains an entry for this variant (Variation ID: 290091). 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.
GeneDx RCV000726432 SCV002104354 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported previously in a child with Emery-Dreifuss Muscular Dystrophy 4; however it is unclear if the individual was heterozygous or homozygous for the variant (Megarbane et al., 2021); This variant is associated with the following publications: (PMID: 34602496)
Clinical Genetics, Academic Medical Center RCV000726432 SCV001921536 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726432 SCV001970945 uncertain significance not provided no assertion criteria provided clinical testing

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