ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.1054A>G (p.Ile352Val)

dbSNP: rs1014974380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885774 SCV002139567 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 352 of the SP110 protein (p.Ile352Val). This variant is not present in population databases (gnomAD no frequency). 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: 1376222). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002552191 SCV003740654 uncertain significance Inborn genetic diseases 2021-11-29 criteria provided, single submitter clinical testing The c.1054A>G (p.I352V) alteration is located in exon 10 (coding exon 9) of the SP110 gene. This alteration results from a A to G substitution at nucleotide position 1054, causing the isoleucine (I) at amino acid position 352 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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