Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001388974 | SCV001590168 | pathogenic | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | The MOCS2 gene encodes two different proteins which are translated from alternative transcripts, MOCS2A and MOCS2B, that have different open reading frames. This variant occurs in MOCS2A, and corresponds to c.65dup (p.Leu23Ilefs*5) in MOCS2B. This sequence change creates a premature translational stop signal (p.Ile85Hisfs*2) in the MOCS2A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the MOCS2A protein. This variant is present in population databases (rs398122799, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 10053004). This variant is also known as 252insC. ClinVar contains an entry for this variant (Variation ID: 6111). For these reasons, this variant has been classified as Pathogenic. Please note, this variant is also classified as Pathogenic in MOCS2B. |
| Gene |
RCV001388974 | SCV003929859 | pathogenic | not provided | 2023-06-02 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Also known as c.252_253insC; p.(I85Hfs*2) based on transcript NM_176806.2; This variant is associated with the following publications: (PMID: 10053004, 12754701, 21031595, 10053003, 35692435, 35192225) |
| OMIM | RCV000006485 | SCV000026668 | pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 2003-06-01 | no assertion criteria provided | literature only |