ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn)

gnomAD frequency: 0.00001  dbSNP: rs550137986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538594 SCV000630935 uncertain significance Achondrogenesis, type IA 2017-06-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "C0"). In summary, this variant has uncertain impact on TRIP11 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with a TRIP11-related disease. This variant is present in population databases (rs550137986, ExAC 0.02%), including at least one homozygous individual. This sequence change replaces aspartate with asparagine at codon 1824 of the TRIP11 protein (p.Asp1824Asn). The  residue is moderately conserved and there is a small physicochemical difference between aspartate and asparagine.

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