ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.1151T>C (p.Met384Thr)

gnomAD frequency: 0.00003  dbSNP: rs182541053
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224331 SCV000281292 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000224331 SCV001872666 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV000224331 SCV002127726 uncertain significance not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 384 of the IARS2 protein (p.Met384Thr). This variant is present in population databases (rs182541053, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 235594). 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.
Ambry Genetics RCV004020721 SCV004884941 uncertain significance Inborn genetic diseases 2023-11-06 criteria provided, single submitter clinical testing The c.1151T>C (p.M384T) alteration is located in exon 9 (coding exon 9) of the IARS2 gene. This alteration results from a T to C substitution at nucleotide position 1151, causing the methionine (M) at amino acid position 384 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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