ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.11637G>C (p.Met3879Ile)

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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 RCV004126780 SCV003612588 uncertain significance not specified 2022-02-09 criteria provided, single submitter clinical testing The c.11637G>C (p.M3879I) alteration is located in exon 58 (coding exon 57) of the SYNE2 gene. This alteration results from a G to C substitution at nucleotide position 11637, causing the methionine (M) at amino acid position 3879 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497963 SCV004280319 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-06-30 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 3879 of the SYNE2 protein (p.Met3879Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 2276112). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine 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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