Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027297 | SCV001189832 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-24 | criteria provided, single submitter | clinical testing | The p.F274S variant (also known as c.821T>C), located in coding exon 1 of the MET gene, results from a T to C substitution at nucleotide position 821. The phenylalanine at codon 274 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
Labcorp Genetics |
RCV001207075 | SCV001378414 | likely benign | Renal cell carcinoma | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001776091 | SCV002012932 | uncertain significance | not provided | 2024-04-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Baylor Genetics | RCV004570082 | SCV005057870 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2024-02-11 | criteria provided, single submitter | clinical testing |