ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.484A>T (p.Met162Leu)

gnomAD frequency: 0.00005  dbSNP: rs553843359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302570 SCV001491784 uncertain significance Achondrogenesis, type IA 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 162 of the TRIP11 protein (p.Met162Leu). This variant is present in population databases (rs553843359, gnomAD 0.03%). 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: 1005658). 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 with a negative predictive value of 80%. 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 RCV003166704 SCV003884329 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.484A>T (p.M162L) alteration is located in exon 4 (coding exon 4) of the TRIP11 gene. This alteration results from a A to T substitution at nucleotide position 484, causing the methionine (M) at amino acid position 162 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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