Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000087317 | SCV000266530 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | criteria provided, single submitter | research | ||
Fulgent Genetics, |
RCV000087317 | SCV002796221 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2022-02-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514539 | SCV003525400 | uncertain significance | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg283*) in the PCYT1A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PCYT1A cause disease. This variant is present in population databases (rs587777192, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with retinal dystrophy and/or spondylometaphyseal dysplasia with cone-rod dystrophy (PMID: 24387990, 28272537). ClinVar contains an entry for this variant (Variation ID: 101060). 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. |
OMIM | RCV000087317 | SCV000120197 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2014-01-02 | no assertion criteria provided | literature only |