ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.4358T>C (p.Ile1453Thr)

gnomAD frequency: 0.00001  dbSNP: rs139513761
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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 RCV001924700 SCV002152052 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-07-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1383879). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs139513761, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1453 of the SYNE2 protein (p.Ile1453Thr).
Ambry Genetics RCV004671492 SCV005165868 uncertain significance not specified 2024-04-08 criteria provided, single submitter clinical testing The c.4358T>C (p.I1453T) alteration is located in exon 30 (coding exon 29) of the SYNE2 gene. This alteration results from a T to C substitution at nucleotide position 4358, causing the isoleucine (I) at amino acid position 1453 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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