Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578774 | SCV000681366 | uncertain significance | not provided | 2018-01-18 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SYNE1 gene. The c.21648 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.21648 C>T variant is observed in 3/9844 (0.03%) alleles from individuals of Ashkenazi Jewish background (Lek et al., 2016). This substitution occurs at a position that is not conserved. Several in silico splice prediction models predict that c.21648 C>T weakens the natural donor site in intron 118 and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |