ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met)

gnomAD frequency: 0.00017  dbSNP: rs150434192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001120587 SCV001279083 uncertain significance Achondrogenesis, type IA 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001120587 SCV002140842 uncertain significance Achondrogenesis, type IA 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1040 of the TRIP11 protein (p.Ile1040Met). This variant is present in population databases (rs150434192, 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: 887692). 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 RCV002556590 SCV003600451 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.3120A>G (p.I1040M) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a A to G substitution at nucleotide position 3120, causing the isoleucine (I) at amino acid position 1040 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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