ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.298A>G (p.Met100Val)

gnomAD frequency: 0.00001  dbSNP: rs996280968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892376 SCV002152207 uncertain significance Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 100 of the TRNT1 protein (p.Met100Val). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TRNT1-related conditions. 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004681290 SCV005173660 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.298A>G (p.M100V) alteration is located in exon 3 (coding exon 2) of the TRNT1 gene. This alteration results from a A to G substitution at nucleotide position 298, causing the methionine (M) at amino acid position 100 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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