ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.15749G>A (p.Arg5250Gln)

gnomAD frequency: 0.00003  dbSNP: rs201962497
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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 RCV000822843 SCV000963661 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-05-03 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 5250 of the SYNE2 protein (p.Arg5250Gln). This variant is present in population databases (rs201962497, 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: 664696). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV004029117 SCV003876174 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.15749G>A (p.R5250Q) alteration is located in exon 85 (coding exon 84) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 15749, causing the arginine (R) at amino acid position 5250 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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