ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)

gnomAD frequency: 0.00001  dbSNP: rs1026697162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001229637 SCV001366835 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-09-07 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV001229637 SCV001402090 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 3167 of the SYNE2 protein (p.Gln3167His). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 930529). 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 tolerated. 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 RCV004033461 SCV004961396 uncertain significance not specified 2023-11-21 criteria provided, single submitter clinical testing The c.9501G>T (p.Q3167H) alteration is located in exon 48 (coding exon 47) of the SYNE2 gene. This alteration results from a G to T substitution at nucleotide position 9501, causing the glutamine (Q) at amino acid position 3167 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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