Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512732 | SCV000608938 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000512732 | SCV001655251 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000512732 | SCV002770013 | uncertain significance | not provided | 2022-12-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004023465 | SCV005008576 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.1771A>C (p.K591Q) alteration is located in exon 22 (coding exon 22) of the PNPT1 gene. This alteration results from a A to C substitution at nucleotide position 1771, causing the lysine (K) at amino acid position 591 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |