ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val)

gnomAD frequency: 0.00002  dbSNP: rs541713444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001954916 SCV002206576 uncertain significance Achondrogenesis, type IA 2021-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1171 of the TRIP11 protein (p.Ile1171Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs541713444, ExAC 0.009%). This variant has not been reported in the literature in individuals with TRIP11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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 RCV004044212 SCV004971601 uncertain significance Inborn genetic diseases 2023-11-21 criteria provided, single submitter clinical testing The c.3511A>G (p.I1171V) 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 3511, causing the isoleucine (I) at amino acid position 1171 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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