ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val)

gnomAD frequency: 0.00011  dbSNP: rs143594637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043585 SCV001207338 uncertain significance Achondrogenesis, type IA 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1656 of the TRIP11 protein (p.Ala1656Val). This variant is present in population databases (rs143594637, gnomAD 0.02%). 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: 841379). 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.
Ambry Genetics RCV004031324 SCV004971608 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.4967C>T (p.A1656V) alteration is located in exon 14 (coding exon 14) of the TRIP11 gene. This alteration results from a C to T substitution at nucleotide position 4967, causing the alanine (A) at amino acid position 1656 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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