ClinVar Miner

Submissions for variant NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys)

gnomAD frequency: 0.00003  dbSNP: rs764341782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332114 SCV001524321 uncertain significance Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 2020-10-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546531 SCV003255516 uncertain significance not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 489 of the TRIP4 protein (p.Arg489Cys). This variant is present in population databases (rs764341782, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TRIP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030539). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TRIP4 protein function with a negative predictive value of 80%. 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 RCV002546532 SCV003564106 uncertain significance Inborn genetic diseases 2021-06-02 criteria provided, single submitter clinical testing The c.1465C>T (p.R489C) alteration is located in exon 10 (coding exon 10) of the TRIP4 gene. This alteration results from a C to T substitution at nucleotide position 1465, causing the arginine (R) at amino acid position 489 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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