ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.869T>C (p.Met290Thr)

gnomAD frequency: 0.00004  dbSNP: rs116707801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701749 SCV000830564 uncertain significance Welander distal myopathy 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 290 of the TIA1 protein (p.Met290Thr). This variant is present in population databases (rs116707801, gnomAD 0.01%). This missense change has been observed in individual(s) with frontotemporal dementia (PMID: 29886022). ClinVar contains an entry for this variant (Variation ID: 578669). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TIA1 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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