ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.277+3_277+5dup

gnomAD frequency: 0.00004  dbSNP: rs1266600719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812552 SCV000952870 uncertain significance Welander distal myopathy 2023-04-24 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 656197). This variant has not been reported in the literature in individuals affected with TIA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 4 of the TIA1 gene. It does not directly change the encoded amino acid sequence of the TIA1 protein. It affects a nucleotide within the consensus splice site.
Revvity Omics, Revvity RCV003141826 SCV003819525 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing

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