ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.10645G>A (p.Glu3549Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958775 SCV003280965 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-03-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3549 of the SYNE2 protein (p.Glu3549Lys).
Ambry Genetics RCV004877767 SCV005510977 uncertain significance not specified 2024-09-30 criteria provided, single submitter clinical testing The c.10645G>A (p.E3549K) alteration is located in exon 52 (coding exon 51) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 10645, causing the glutamic acid (E) at amino acid position 3549 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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