Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000175624 | SCV000227148 | pathogenic | not provided | 2014-10-13 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000410051 | SCV000485463 | likely pathogenic | Niemann-Pick disease, type A | 2015-12-18 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000410051 | SCV001363219 | likely pathogenic | Niemann-Pick disease, type A | 2022-03-09 | criteria provided, single submitter | clinical testing | Variant summary: SMPD1 c.354delC (p.Ile119SerfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250864 control chromosomes (gnomAD). c.354delC has been reported in the literature in the setting of NGS based carrier screening, without providing further information (Abuli_2016). This report does not provide unequivocal conclusions about association of the variant with Niemann-Pick Disease Type A. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters have assessed the variant since 2014: two have classified the variant as likely pathogenic, and one as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Invitae | RCV001207366 | SCV001378712 | pathogenic | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2023-06-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 167708). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile119Serfs*7) 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). |
| Gene |
RCV000175624 | SCV001783989 | likely pathogenic | not provided | 2022-07-13 | 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; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26990548) |
| Baylor Genetics | RCV000410051 | SCV004203234 | pathogenic | Niemann-Pick disease, type A | 2023-06-11 | criteria provided, single submitter | clinical testing |