ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.770A>T (p.Asn257Ile)

gnomAD frequency: 0.00003  dbSNP: rs765028674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812747 SCV000953070 uncertain significance Welander distal myopathy 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 257 of the TIA1 protein (p.Asn257Ile). This variant is present in population databases (rs765028674, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TIA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 656352). 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. 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.
Revvity Omics, Revvity RCV003141827 SCV003819533 uncertain significance not provided 2020-02-25 criteria provided, single submitter clinical testing

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