ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)

dbSNP: rs780134410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669477 SCV000794234 uncertain significance Niemann-Pick disease, type A 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868233 SCV002262853 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 553935). This missense change has been observed in individual(s) with Niemann-Pick disease type B (PMID: 21621718, 22818240). This variant is present in population databases (rs780134410, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 163 of the SMPD1 protein (p.Leu163Pro).
Baylor Genetics RCV000669477 SCV004205526 likely pathogenic Niemann-Pick disease, type A 2023-11-21 criteria provided, single submitter clinical testing

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