Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672040 | SCV000797099 | likely pathogenic | Niemann-Pick disease, type A | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Centogene AG - |
RCV001250173 | SCV001424498 | pathogenic | Niemann-Pick disease, type B; Niemann-Pick disease, type A | criteria provided, single submitter | clinical testing | ||
Diagnostics Division, |
RCV000672040 | SCV001738412 | pathogenic | Niemann-Pick disease, type A | 2021-04-25 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV001250173 | SCV002810313 | likely pathogenic | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001250173 | SCV004570143 | pathogenic | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2023-08-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SMPD1 function (PMID: 16010684, 34273913). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SMPD1 protein function. ClinVar contains an entry for this variant (Variation ID: 556092). This variant is also known as c.308T>C (p.L103P). This missense change has been observed in individual(s) with Niemann-Pick disease (PMID: 15221801, 22818240, 33083013, 34273913). This variant is present in population databases (rs751269562, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 105 of the SMPD1 protein (p.Leu105Pro). |