ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1078G>A (p.Val360Met)

gnomAD frequency: 0.00013  dbSNP: rs201905164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806619 SCV000946627 uncertain significance Welander distal myopathy 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 360 of the TIA1 protein (p.Val360Met). This variant is present in population databases (rs201905164, gnomAD 0.01%). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 28817800, 29216908). ClinVar contains an entry for this variant (Variation ID: 651295). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV003141808 SCV003819537 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing

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