ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12227A>G (p.Glu4076Gly)

gnomAD frequency: 0.00002  dbSNP: rs556962500
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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 RCV001320254 SCV001511034 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-07-06 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1020642). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs556962500, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 4076 of the SYNE2 protein (p.Glu4076Gly).
Ambry Genetics RCV004671338 SCV005165898 uncertain significance not specified 2024-05-23 criteria provided, single submitter clinical testing The c.12227A>G (p.E4076G) alteration is located in exon 62 (coding exon 61) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 12227, causing the glutamic acid (E) at amino acid position 4076 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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