ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.311G>A (p.Arg104Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004127440 SCV003605609 uncertain significance not specified 2022-01-04 criteria provided, single submitter clinical testing The c.311G>A (p.R104Q) alteration is located in exon 5 (coding exon 4) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 311, causing the arginine (R) at amino acid position 104 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005059290 SCV005716868 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-09-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 104 of the SYNE2 protein (p.Arg104Gln). This variant is present in population databases (rs767367300, gnomAD 0.01%). 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: 2269942). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine 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.

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