ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)

gnomAD frequency: 0.00011  dbSNP: rs756300560
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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) RCV000725537 SCV000337592 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725537 SCV000615692 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing
Invitae RCV000530037 SCV000649222 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2954 of the SYNE1 protein (p.Leu2954Val). This variant is present in population databases (rs756300560, gnomAD 0.02%). 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: 284811). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV000725537 SCV001823156 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Revvity Omics, Revvity RCV000725537 SCV003826320 uncertain significance not provided 2023-04-20 criteria provided, single submitter clinical testing

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