ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)

dbSNP: rs1847925080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040553 SCV001204133 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 233 of the SMPD1 protein (p.Ser233Phe). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 838902). 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).
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV001040553 SCV001738418 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research

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