Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000267511 | SCV001450108 | pathogenic | not provided | 2014-07-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
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 |