ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) (rs41301343)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710240 SCV000615560 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180075 SCV000232440 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714610 SCV000845320 uncertain significance Spinocerebellar ataxia, autosomal recessive 8 2018-08-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282267 SCV000461171 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316351 SCV000461172 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533703 SCV000649042 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-12-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 4684 of the SYNE1 protein (p.Leu4684Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs41301343, ExAC 0.2%). This variant was reported in an individual affected with Dubowitz Syndrome (PMID: 24892279). ClinVar contains an entry for this variant (Variation ID: 198671). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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