ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003063499 SCV003457620 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-10-03 criteria provided, single submitter clinical testing This variant, c.106_107insCGCTGGCGCTGGCGCTGG, results in the insertion of 6 amino acid(s) of the SMPD1 protein (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu), 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV003883871 SCV004701610 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing SMPD1: PM2, PM4

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