ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys)

gnomAD frequency: 0.00004  dbSNP: rs374948516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288490 SCV001475641 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871719 SCV002108929 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 6385 of the SYNE2 protein (p.Glu6385Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs374948516, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Ambry Genetics RCV004035561 SCV004958901 uncertain significance not specified 2023-12-21 criteria provided, single submitter clinical testing The c.19153G>A (p.E6385K) alteration is located in exon 106 (coding exon 105) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 19153, causing the glutamic acid (E) at amino acid position 6385 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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