ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.2425A>G (p.Thr809Ala)

gnomAD frequency: 0.00018  dbSNP: rs374684922
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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 RCV001365631 SCV001561907 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-07-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 809 of the SYNE2 protein (p.Thr809Ala). This variant is present in population databases (rs374684922, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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: 1056752). 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 RCV004867727 SCV005510907 uncertain significance not specified 2024-06-26 criteria provided, single submitter clinical testing The c.2425A>G (p.T809A) alteration is located in exon 20 (coding exon 19) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 2425, causing the threonine (T) at amino acid position 809 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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