ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.20524G>A (p.Gly6842Ser)

dbSNP: rs201538331
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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 RCV000695045 SCV000823520 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-11-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 6842 of the SYNE2 protein (p.Gly6842Ser). This variant is present in population databases (rs201538331, 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: 573384). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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 RCV004867690 SCV005510910 uncertain significance not specified 2024-10-09 criteria provided, single submitter clinical testing The c.20524G>A (p.G6842S) alteration is located in exon 116 (coding exon 115) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 20524, causing the glycine (G) at amino acid position 6842 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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