Submissions for variant NM_005506.4(SCARB2):c.9A>G (p.Arg3=) (rs148558907)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000612482	SCV000716033	likely benign	not specified	2017-02-20	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	RCV000798909	SCV000938552	uncertain significance	Progressive myoclonic epilepsy	2018-12-05	criteria provided, single submitter	clinical testing	This sequence change affects codon 3 of the SCARB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCARB2 protein. This variant is present in population databases (rs148558907, ExAC 0.002%). This variant has not been reported in the literature in individuals with SCARB2-related disease. ClinVar contains an entry for this variant (Variation ID: 507452). 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. 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.