ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)

gnomAD frequency: 0.00002  dbSNP: rs747068278
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000267511 SCV000330041 pathogenic not provided 2019-08-17 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (increase in stress granule abundance) (Hackman et al., 2013); This variant is associated with the following publications: (PMID: 23348830, 23401021, 10482271, 27282841, 28221306, 28817800, 30348846, 31321302, 33144682)
Invitae RCV000576901 SCV000964805 pathogenic Welander distal myopathy 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 384 of the TIA1 protein (p.Glu384Lys). This variant is present in population databases (rs747068278, gnomAD 0.007%). This missense change has been observed in individuals with Welander distal myopathy (WDM) (PMID: 10482271, 23348830, 23401021, 27282841). It is commonly reported in individuals of Finnish ancestry (PMID: 10482271, 23348830, 23401021, 27282841). ClinVar contains an entry for this variant (Variation ID: 41480). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects TIA1 function (PMID: 23401021, 28817800). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV000267511 SCV001450108 pathogenic not provided 2014-07-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000267511 SCV002018969 pathogenic not provided 2019-03-22 criteria provided, single submitter clinical testing
OMIM RCV000576901 SCV000678313 pathogenic Welander distal myopathy 2013-04-01 no assertion criteria provided literature only

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