ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1341-21_1341-18del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474053 SCV004203232 likely pathogenic Niemann-Pick disease, type A 2023-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779122 SCV004568618 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-06-25 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has been observed in individual(s) with Niemann-Pick disease (PMID: 24718843, 33675270). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change falls in intron 4 of the SMPD1 gene. It does not directly change the encoded amino acid sequence of the SMPD1 protein.

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