ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.1037C>T (p.Ser346Leu)

dbSNP: rs1574675911
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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 RCV000817299 SCV000957851 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2018-10-23 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SP110-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 346 of the SP110 protein (p.Ser346Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.

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