ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)

gnomAD frequency: 0.00004  dbSNP: rs201327410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177963 SCV000229928 uncertain significance not provided 2015-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001223487 SCV001395639 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-04-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1859 of the SYNE2 protein (p.Lys1859Glu). This variant is present in population databases (rs201327410, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 197053). 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 glutamic acid 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.
Ambry Genetics RCV004020119 SCV003585697 uncertain significance not specified 2021-10-14 criteria provided, single submitter clinical testing The c.5575A>G (p.K1859E) alteration is located in exon 38 (coding exon 37) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 5575, causing the lysine (K) at amino acid position 1859 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001223487 SCV003818813 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-05-18 criteria provided, single submitter clinical testing

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