ClinVar Miner

Submissions for variant NM_001375524.1(TRRAP):c.2857G>A (p.Ala953Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035961 SCV005671978 uncertain significance Developmental delay with or without dysmorphic facies and autism; Hearing loss, autosomal dominant 75 2024-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005105291 SCV005778063 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 953 of the TRRAP protein (p.Ala953Thr). This variant is present in population databases (rs557385921, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TRRAP-related conditions. 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 TRRAP 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.

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