ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met)

gnomAD frequency: 0.00011  dbSNP: rs147588757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597430 SCV000704105 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV001347327 SCV001541583 uncertain significance Achondrogenesis, type IA 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1469 of the TRIP11 protein (p.Val1469Met). This variant is present in population databases (rs147588757, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. 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: 498875). 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.

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