ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del)

dbSNP: rs1216670947
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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 RCV001300940 SCV001490091 uncertain significance Achondrogenesis, type IA 2020-08-30 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TRIP11-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.4159_4161del, results in the deletion of 1 amino acid(s) of the TRIP11 protein (p.Glu1387del), but otherwise preserves the integrity of the reading frame.

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