ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) (rs180727534)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713587 SCV000334006 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393083 SCV000461259 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284405 SCV000461260 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713587 SCV000844212 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
Invitae RCV000815827 SCV000956299 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 3877 of the SYNE1 protein (p.Leu3877Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs180727534, ExAC 0.03%). This variant has been observed in combination with other SYNE1 variants in a family affected with intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy (PMID: 24123876). This variant is also known as p.Leu3892Ser in the literature. ClinVar contains an entry for this variant (Variation ID: 92125). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
OMIM RCV000077791 SCV000109617 uncertain significance Intellectual functioning disability 2013-12-01 no assertion criteria provided literature only

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