ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del) (rs749616153)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599206 SCV000710549 uncertain significance not provided 2018-02-19 criteria provided, single submitter clinical testing The c.590_601del12 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 23/94966 (0.0242%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). It results in the in-frame deletion of 4 amino acids. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, 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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