ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val)

gnomAD frequency: 0.00006  dbSNP: rs145639107
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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) RCV000592000 SCV000703734 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Invitae RCV001240469 SCV001413414 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 4273 of the SYNE1 protein (p.Glu4273Val). This variant is present in population databases (rs145639107, gnomAD 0.04%). 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: 498624). 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 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.
Ambry Genetics RCV002531028 SCV003591513 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.12818A>T (p.E4273V) alteration is located in exon 77 (coding exon 76) of the SYNE1 gene. This alteration results from a A to T substitution at nucleotide position 12818, causing the glutamic acid (E) at amino acid position 4273 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000592000 SCV003825285 uncertain significance not provided 2019-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000592000 SCV004022690 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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