ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser)

gnomAD frequency: 0.00014  dbSNP: rs145518327
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532797 SCV000649116 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 7287 of the SYNE1 protein (p.Ala7287Ser). This variant is present in population databases (rs145518327, gnomAD 0.07%). 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: 471027). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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.
Eurofins Ntd Llc (ga) RCV000594135 SCV000705083 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000594135 SCV002757315 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing 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
Revvity Omics, Revvity RCV000594135 SCV003824712 uncertain significance not provided 2022-09-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000594135 SCV004160515 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing SYNE1: PM2, BP4

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