ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg)

gnomAD frequency: 0.00009  dbSNP: rs200721244
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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 RCV001372760 SCV001569445 uncertain significance Achondrogenesis, type IA 2022-02-28 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1072 of the TRIP11 protein (p.His1072Arg). This variant is present in population databases (rs200721244, gnomAD 0.01%). 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: 1062975). 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: "Benign"; 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 RCV002550925 SCV003718012 uncertain significance Inborn genetic diseases 2022-06-30 criteria provided, single submitter clinical testing The c.3215A>G (p.H1072R) 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 3215, causing the histidine (H) at amino acid position 1072 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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