Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001009917 | SCV001170046 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-06 | criteria provided, single submitter | clinical testing | The p.W37C variant (also known as c.111G>T), located in coding exon 1 of the FH gene, results from a G to T substitution at nucleotide position 111. The tryptophan at codon 37 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved on limited sequence alignment. 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. |