ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del)

dbSNP: rs749191728
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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 RCV001370741 SCV001567272 uncertain significance Achondrogenesis, type IA 2022-01-18 criteria provided, single submitter clinical testing This variant, c.1934_1939del, results in the deletion of 2 amino acid(s) of the TRIP11 protein (p.Lys645_Glu646del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749191728, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1061203). 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.

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