ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3161T>G (p.Val1054Gly)

gnomAD frequency: 0.00006  dbSNP: rs552345466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340127 SCV001533926 uncertain significance Achondrogenesis, type IA 2023-06-25 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) 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. ClinVar contains an entry for this variant (Variation ID: 1037034). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs552345466, gnomAD 0.07%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1054 of the TRIP11 protein (p.Val1054Gly).
Ambry Genetics RCV004035924 SCV004971598 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.3161T>G (p.V1054G) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a T to G substitution at nucleotide position 3161, causing the valine (V) at amino acid position 1054 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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