ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002933562 SCV003269549 uncertain significance Achondrogenesis, type IA 2022-07-16 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 affected with TRIP11-related conditions. This variant is present in population databases (rs760522108, gnomAD 0.03%). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 14 of the TRIP11 protein (p.Gln14Pro).

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