ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val)

dbSNP: rs375135703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891006 SCV002163392 uncertain significance Achondrogenesis, type IA 2020-12-02 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with TRIP11-related conditions. This variant is present in population databases (rs375135703, ExAC 0.007%). This sequence change replaces glutamic acid with valine at codon 870 of the TRIP11 protein (p.Glu870Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine.
Ambry Genetics RCV004970415 SCV005520957 uncertain significance Inborn genetic diseases 2024-08-06 criteria provided, single submitter clinical testing The c.2609A>T (p.E870V) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a A to T substitution at nucleotide position 2609, causing the glutamic acid (E) at amino acid position 870 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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