ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu)

gnomAD frequency: 0.00001  dbSNP: rs557133901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897401 SCV002149407 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 3512 of the SYNE2 protein (p.Asp3512Glu). This variant is present in population databases (rs557133901, gnomAD 0.03%). 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: 1382092). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Athena Diagnostics RCV002473316 SCV002771342 uncertain significance not provided 2021-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004867751 SCV005510899 uncertain significance not specified 2024-10-04 criteria provided, single submitter clinical testing The c.10536C>A (p.D3512E) alteration is located in exon 52 (coding exon 51) of the SYNE2 gene. This alteration results from a C to A substitution at nucleotide position 10536, causing the aspartic acid (D) at amino acid position 3512 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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