ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)

dbSNP: rs1205990349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664760 SCV000788770 likely pathogenic Niemann-Pick disease, type A 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV001386465 SCV001586695 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550117). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln10*) 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 RCV000664760 SCV004205516 likely pathogenic Niemann-Pick disease, type A 2023-03-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980292 SCV004788251 likely pathogenic SMPD1-related condition 2023-11-02 criteria provided, single submitter clinical testing The SMPD1 c.28C>T variant is predicted to result in premature protein termination (p.Gln10*). This variant was reported in an individual with Niemann-Pick disease (Vélez Pinos et al. 2023. PubMed ID: 36779112). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SMPD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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