ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser)

gnomAD frequency: 0.00004  dbSNP: rs200963371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350228 SCV001544610 uncertain significance Welander distal myopathy 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 336 of the TIA1 protein (p.Gly336Ser). This variant is present in population databases (rs200963371, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. 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: 1045764). 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. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508080 SCV001713996 uncertain significance not provided 2019-08-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508080 SCV003819522 uncertain significance not provided 2020-12-16 criteria provided, single submitter clinical testing

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