ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002904117 SCV003253788 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-04-18 criteria provided, single submitter clinical testing This variant, c.107_136dup, results in the insertion of 10 amino acid(s) of the SMPD1 protein (p.Val36_Leu45dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481347 SCV004225359 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing

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