ClinVar Miner

Submissions for variant NM_016216.4(DBR1):c.359T>C (p.Ile120Thr)

dbSNP: rs2107906060
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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 RCV002568260 SCV003292836 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 120 of the DBR1 protein (p.Ile120Thr). This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies have shown that this missense change affects DBR1 function (PMID: 29474921). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1184274). This missense change has been observed in individual(s) with clinical features of DBR1 related conditions (PMID: 29474921). It has also been observed to segregate with disease in related individuals.
OMIM RCV001542265 SCV001760943 risk factor Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 2021-07-22 no assertion criteria provided literature only

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