ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser)

gnomAD frequency: 0.00024  dbSNP: rs113605039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001969529 SCV002259678 uncertain significance Achondrogenesis, type IA 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1967 of the TRIP11 protein (p.Asn1967Ser). This variant is present in population databases (rs113605039, 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: 1473435). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276965 SCV002567090 uncertain significance Connective tissue disorder 2019-08-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738120 SCV004563771 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing The TRIP11 c.5900A>G; p.Asn1967Ser variant (rs113605039), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1473435). This variant is found in the non-Finnish European population with an allele frequency of 0.03% (34/129,130 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.099). However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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