ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.11881A>C (p.Met3961Leu)

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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 RCV003604585 SCV004561651 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-08-09 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. 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. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs760663583, gnomAD 0.02%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3961 of the SYNE2 protein (p.Met3961Leu).
Ambry Genetics RCV004374360 SCV004958861 uncertain significance not specified 2024-03-07 criteria provided, single submitter clinical testing The c.11881A>C (p.M3961L) alteration is located in exon 60 (coding exon 59) of the SYNE2 gene. This alteration results from a A to C substitution at nucleotide position 11881, causing the methionine (M) at amino acid position 3961 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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