ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.331A>G (p.Lys111Glu)

gnomAD frequency: 0.00011  dbSNP: rs776314213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001983454 SCV002269579 uncertain significance Achondrogenesis, type IA 2022-09-12 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. 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. ClinVar contains an entry for this variant (Variation ID: 1489824). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs776314213, gnomAD 0.03%). This sequence change replaces lysine with glutamic acid at codon 111 of the TRIP11 protein (p.Lys111Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.
Ambry Genetics RCV004045303 SCV004971599 uncertain significance Inborn genetic diseases 2023-10-27 criteria provided, single submitter clinical testing The c.331A>G (p.K111E) alteration is located in exon 4 (coding exon 4) of the TRIP11 gene. This alteration results from a A to G substitution at nucleotide position 331, causing the lysine (K) at amino acid position 111 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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