ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002300461 SCV002594229 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-10-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 470 of the SMPD1 protein (p.Asp470Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Niemann Pick type B (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SMPD1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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