ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.317T>C (p.Val106Ala)

gnomAD frequency: 0.00002  dbSNP: rs768821081
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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 RCV001977642 SCV002267248 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-07-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1475894). This variant has not been reported in the literature in individuals affected with SP110-related conditions. This variant is present in population databases (rs768821081, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 106 of the SP110 protein (p.Val106Ala). 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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