Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV001257458 | SCV001429640 | uncertain significance | Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2 | 2020-08-01 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 3 of the FGFR3 gene that results in the amino acid substitution of Alanine for Glycine at codon 67 was detected. The observed variant c.200G>C (p.Gly67Ala) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is benign by PolyPhen-2 (HumDiv), SIFT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance. |