Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001726790 | SCV001961179 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539757 | SCV003647193 | uncertain significance | Inborn genetic diseases | 2022-10-12 | criteria provided, single submitter | clinical testing | The c.1291T>G (p.F431V) alteration is located in exon 14 (coding exon 14) of the MTR gene. This alteration results from a T to G substitution at nucleotide position 1291, causing the phenylalanine (F) at amino acid position 431 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |