ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr)

gnomAD frequency: 0.00061  dbSNP: rs150984011
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652441 SCV000774311 likely benign Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001824855 SCV002599645 uncertain significance not provided 2024-09-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV001824855 SCV005262008 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001824855 SCV005876070 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing The TRNT1 c.1292T>C; p.Ile431Thr variant (rs150984011), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 542066). This variant is observed in the general population with an overall allele frequency of 0.06% (176/281194 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.152). Due to limited information, the clinical significance of this variant is uncertain at this time.
GenomeConnect, ClinGen RCV001824855 SCV002074841 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-28-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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