ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.16717C>T (p.Arg5573Trp)

gnomAD frequency: 0.00001  dbSNP: rs138323662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593729 SCV000706346 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647529 SCV000769325 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-08-27 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 500415). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs138323662, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 5573 of the SYNE2 protein (p.Arg5573Trp).
Ambry Genetics RCV004024791 SCV003672818 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The c.16717C>T (p.R5573W) alteration is located in exon 91 (coding exon 90) of the SYNE2 gene. This alteration results from a C to T substitution at nucleotide position 16717, causing the arginine (R) at amino acid position 5573 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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