ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])

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
Invitae RCV001247390 SCV001420807 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-09-27 criteria provided, single submitter clinical testing This variant, c.138_143dup, results in the insertion of 2 amino acid(s) of the SMPD1 protein (p.Ala48_Leu49dup), 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: 971581). 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 RCV001567445 SCV001791128 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing In-frame insertion of 2 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001567445 SCV002541118 uncertain significance not provided 2021-11-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945945 SCV004767664 likely benign SMPD1-related disorder 2019-10-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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