ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer)

dbSNP: rs886041075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003746509 SCV004375296 pathogenic Progressive myoclonic epilepsy 2023-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 268138). This premature translational stop signal has been observed in individual(s) with progressive myoclonic epilepsy (PMID: 19847901). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr222*) in the SCARB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCARB2 are known to be pathogenic (PMID: 19847901).
GeneReviews RCV000258867 SCV000328632 pathogenic Action myoclonus-renal failure syndrome 2015-03-05 no assertion criteria provided literature only

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