ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1108A>G (p.Met370Val)

gnomAD frequency: 0.00001  dbSNP: rs752969561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035262 SCV001198585 uncertain significance Welander distal myopathy 2023-04-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TIA1-related conditions. This variant is present in population databases (rs752969561, gnomAD 0.03%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 370 of the TIA1 protein (p.Met370Val). ClinVar contains an entry for this variant (Variation ID: 834552). 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. 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.

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