Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670505 | SCV000795364 | likely pathogenic | Niemann-Pick disease, type A | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868244 | SCV002238992 | pathogenic | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2021-06-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Niemann-Pick disease type B (PMID: 12369017). ClinVar contains an entry for this variant (Variation ID: 554810). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln21*) in the SMPD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801). |
Baylor Genetics | RCV000670505 | SCV004205525 | pathogenic | Niemann-Pick disease, type A | 2023-01-18 | criteria provided, single submitter | clinical testing |