ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)

dbSNP: rs749196764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410534 SCV000486468 likely pathogenic GRACILE syndrome 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV001218287 SCV001390162 pathogenic not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser82*) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 371015). Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001334242 SCV001527034 pathogenic Mitochondrial complex III deficiency nuclear type 1 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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