ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)

dbSNP: rs281860669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666528 SCV000790833 uncertain significance Niemann-Pick disease, type A 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530686 SCV003439565 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-01-19 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: 551462). This missense change has been observed in individuals with Niemann-Pick disease (PMID: 23356216, 33675270). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 429 of the SMPD1 protein (p.Pro429Leu).

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