ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1194G>A (p.Thr398=)

gnomAD frequency: 0.00001  dbSNP: rs574498998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436083 SCV000530256 likely benign not specified 2016-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000801038 SCV000940792 uncertain significance Progressive myoclonic epilepsy 2020-01-24 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SCARB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 388048). This variant is present in population databases (rs574498998, ExAC 0.01%). This sequence change affects codon 398 of the SCARB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCARB2 protein.

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