ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3514G>A (p.Glu1172Lys)

gnomAD frequency: 0.00007  dbSNP: rs145498019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001891316 SCV002164826 uncertain significance Achondrogenesis, type IA 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1172 of the TRIP11 protein (p.Glu1172Lys). This variant is present in population databases (rs145498019, gnomAD 0.01%). 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: 1395153). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRIP11 protein function. 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.
Ambry Genetics RCV003247114 SCV003938376 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.3514G>A (p.E1172K) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a G to A substitution at nucleotide position 3514, causing the glutamic acid (E) at amino acid position 1172 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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