ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala)

gnomAD frequency: 0.00004  dbSNP: rs766521899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001929594 SCV002207177 uncertain significance Achondrogenesis, type IA 2022-09-27 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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. ClinVar contains an entry for this variant (Variation ID: 1426774). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs766521899, gnomAD 0.05%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1340 of the TRIP11 protein (p.Glu1340Ala).
Ambry Genetics RCV003289245 SCV003959541 uncertain significance Inborn genetic diseases 2023-03-22 criteria provided, single submitter clinical testing The c.4019A>C (p.E1340A) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a A to C substitution at nucleotide position 4019, causing the glutamic acid (E) at amino acid position 1340 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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