ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.952G>C (p.Val318Leu)

gnomAD frequency: 0.00003  dbSNP: rs201742692
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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 RCV000819135 SCV000959778 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-06-04 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 661665). This variant has not been reported in the literature in individuals affected with SP110-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 318 of the SP110 protein (p.Val318Leu). This variant is present in population databases (rs201742692, gnomAD 0.02%).

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