ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1655A>C (p.Asp552Ala)

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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 RCV002927202 SCV003259951 uncertain significance Achondrogenesis, type IA 2022-08-16 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs747623787, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 552 of the TRIP11 protein (p.Asp552Ala). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions.

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