ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)

gnomAD frequency: 0.00003  dbSNP: rs1024177161
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987804 SCV001137260 uncertain significance Autosomal recessive ataxia, Beauce type 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265864 SCV001444036 uncertain significance Inborn genetic diseases 2019-05-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288048 SCV001474864 uncertain significance not provided 2020-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858678 SCV002285086 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3234 of the SYNE1 protein (p.Glu3234Lys). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 802283). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001288048 SCV002765242 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32686686)

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