ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.19568C>T (p.Thr6523Met)

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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 RCV002597264 SCV002940693 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-07-03 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1911852). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs556226477, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 6523 of the SYNE2 protein (p.Thr6523Met).
Revvity Omics, Revvity RCV002597264 SCV003818216 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004867797 SCV005510913 uncertain significance not specified 2024-07-30 criteria provided, single submitter clinical testing The c.19568C>T (p.T6523M) alteration is located in exon 109 (coding exon 108) of the SYNE2 gene. This alteration results from a C to T substitution at nucleotide position 19568, causing the threonine (T) at amino acid position 6523 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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