ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002914639 SCV003265220 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 266 of the SMPD1 protein (p.Leu266Val). This variant is present in population databases (rs200681698, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. 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 not expected to disrupt SMPD1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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