ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro)

gnomAD frequency: 0.00001  dbSNP: rs763134759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382686 SCV000387624 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001233883 SCV001406497 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-03-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs763134759, gnomAD 0.04%), 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: 313662). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 6800 of the SYNE2 protein (p.Leu6800Pro).
Ambry Genetics RCV004867681 SCV005510966 uncertain significance not specified 2024-08-28 criteria provided, single submitter clinical testing The c.20399T>C (p.L6800P) alteration is located in exon 114 (coding exon 113) of the SYNE2 gene. This alteration results from a T to C substitution at nucleotide position 20399, causing the leucine (L) at amino acid position 6800 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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