ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile)

gnomAD frequency: 0.00006  dbSNP: rs199834800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002005552 SCV002270395 uncertain significance Achondrogenesis, type IA 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1769 of the TRIP11 protein (p.Met1769Ile). This variant is present in population databases (rs199834800, gnomAD 0.2%). 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: 1484108). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
CeGaT Center for Human Genetics Tuebingen RCV003883734 SCV004698809 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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