ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)

dbSNP: rs1554933751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670505 SCV000795364 likely pathogenic Niemann-Pick disease, type A 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV001868244 SCV002238992 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2021-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Niemann-Pick disease type B (PMID: 12369017). ClinVar contains an entry for this variant (Variation ID: 554810). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln21*) 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).
Baylor Genetics RCV000670505 SCV004205525 pathogenic Niemann-Pick disease, type A 2023-01-18 criteria provided, single submitter clinical testing

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