ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser)

dbSNP: rs140688153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017523 SCV002291982 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-01-27 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: 1501508). This missense change has been observed in individual(s) with Niemann-Pick disease type B (PMID: 23356216). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 430 of the SMPD1 protein (p.Pro430Ser).

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