ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4830_4833AAAG[1] (p.Lys1612fs) (rs1274744069)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825550 SCV000966867 likely pathogenic Achondrogenesis, type IA 2018-07-05 criteria provided, single submitter clinical testing The p.Lys1612SerfsX8 variant in TRIP11 has not been previously reported in indiv iduals with achondrogenesis type 1A. This variant has been identified in 1/33564 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs1274744069). Although this variant has been seen in th e general population, its frequency is low enough to be consistent with a recess ive carrier frequency. This variant is predicted to cause a frameshift, which al ters the protein?s amino acid sequence beginning at position 1612 and leads to a premature termination codon 8 amino acids downstream. This alteration is then p redicted to lead to a truncated or absent protein. In summary, although addition al studies are required to fully establish its clinical significance, the p.Lys1 612SerfsX8 variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PVS1_St rong.

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