ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365839 SCV001562123 uncertain significance Welander distal myopathy 2020-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 362 of the TIA1 protein (p.Pro362Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs757332023, ExAC 0.01%). This variant has been observed in individual(s) with amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) and dementia with Lewy bodies (PMID: 28817800, 31996268). Experimental studies have shown that this variant affects TIA1 protein function (PMID: 28817800). 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.
OMIM RCV001281089 SCV001468513 pathogenic AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA 2021-01-06 no assertion criteria provided literature only

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