ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21861C>T (p.Asn7287=)

gnomAD frequency: 0.00004  dbSNP: rs372155442
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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