ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) (rs142117628)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713637 SCV000844263 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713637 SCV000335821 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316401 SCV000460957 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354826 SCV000460958 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528543 SCV000649127 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 7567 of the SYNE1 protein (p.Gly7567Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs142117628, ExAC 0.07%). This variant has not been reported in the literature in individuals with a SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 283618). 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: "Benign"; Align-GVGD: "Class C65"). In summary, this variant has uncertain impact on SYNE1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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