ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.18998G>A (p.Cys6333Tyr)

dbSNP: rs768044506
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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 RCV001306491 SCV001495865 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 6333 of the SYNE2 protein (p.Cys6333Tyr). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1009056). 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. 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 RCV004034098 SCV003693742 uncertain significance not specified 2024-10-12 criteria provided, single submitter clinical testing The c.18998G>A (p.C6333Y) alteration is located in exon 105 (coding exon 104) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 18998, causing the cysteine (C) at amino acid position 6333 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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