ClinVar Miner

Submissions for variant NM_013372.7(GREM1):c.10A>G (p.Thr4Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002430791 SCV002740810 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-09 criteria provided, single submitter clinical testing The p.T4A variant (also known as c.10A>G), located in coding exon 1 of the GREM1 gene, results from an A to G substitution at nucleotide position 10. The threonine at codon 4 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596555 SCV005090164 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV005055199 SCV005689088 uncertain significance Polyposis syndrome, hereditary mixed, 1 2025-02-05 criteria provided, single submitter clinical testing The GREM1 c.10A>G (p.Thr4Ala) missense change has a maximum subpopulation frequency of 0.001% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with hereditary mixed polyposis syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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