Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823029 | SCV000963867 | pathogenic | Neuronal ceroid lipofuscinosis 1 | 2022-07-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser3Argfs*34) in the PPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943, 21990111). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664850). This premature translational stop signal has been observed in individual(s) with variant late infantile neuronal ceroid lipofuscinoses (PMID: 11727201). This variant is not present in population databases (gnomAD no frequency). |
Fulgent Genetics, |
RCV000823029 | SCV002810310 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2022-03-11 | criteria provided, single submitter | clinical testing |