ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.848G>T (p.Cys283Phe)

dbSNP: rs754775004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317992 SCV001508678 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 283 of the SP110 protein (p.Cys283Phe). This variant is present in population databases (rs754775004, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SP110-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018661). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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