ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.581del (p.Pro194fs)

dbSNP: rs748165078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411552 SCV000486735 likely pathogenic Niemann-Pick disease, type A 2016-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766133 SCV004569735 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro194Glnfs*63) in the SMPD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Niemann-Pick disease (PMID: 15221801, 30795770). This variant is also known as c.575delC (p.P192fsX62). ClinVar contains an entry for this variant (Variation ID: 371211). For these reasons, this variant has been classified as Pathogenic.

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