ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4])

dbSNP: rs3838786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244349 SCV000305090 likely benign not specified criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000244349 SCV000864377 benign not specified 2017-03-20 criteria provided, single submitter clinical testing Normal variation in repetative sequence
Invitae RCV001247133 SCV001420540 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-08-09 criteria provided, single submitter clinical testing This variant, c.132_143del, results in the deletion of 4 amino acid(s) of the SMPD1 protein (p.Ala46_Leu49del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 256591). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001562100 SCV001784817 likely benign not provided 2020-04-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 7727545)

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