ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys)

gnomAD frequency: 0.00001  dbSNP: rs370430518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060248 SCV001224925 uncertain significance Welander distal myopathy 2022-03-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 855071). This variant has not been reported in the literature in individuals affected with TIA1-related conditions. This variant is present in population databases (rs370430518, gnomAD 0.006%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 48 of the TIA1 protein (p.Tyr48Cys). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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