Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090772 | SCV001246488 | pathogenic | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090772 | SCV001562968 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 101065). This premature translational stop signal has been observed in individual(s) with spondylometaphyseal dysplasia with cone-rod dystrophy (PMID: 24387991). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs768195758, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser323Argfs*38) in the PCYT1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the PCYT1A protein. |
OMIM | RCV000087322 | SCV000120202 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2014-01-02 | no assertion criteria provided | literature only |