ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)

dbSNP: rs751269562
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Total submissions: 5
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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 - the Rare Disease Company RCV001250173 SCV001424498 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A criteria provided, single submitter clinical testing
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000672040 SCV001738412 pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research
Fulgent Genetics, 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).

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