ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs)

dbSNP: rs1177756267
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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 RCV001052157 SCV001216354 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-06-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser6105Profs*43) in the SYNE2 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 SYNE2 cause disease. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 848406).

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