ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.1684C>T (p.Arg562Ter)

gnomAD frequency: 0.00006  dbSNP: rs1370359939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797865 SCV000937449 uncertain significance Emery-Dreifuss muscular dystrophy 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg562*) in the SUN2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SUN2 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SUN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 644029). 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.

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