ClinVar Miner

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

dbSNP: rs749196764
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Total submissions: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001218287 SCV001390162 pathogenic not provided 2023-11-28 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. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 12215968, 17314340, 19162478, 19508421, 22277166, 25895478). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 371015). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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].
Baylor Genetics RCV003475959 SCV004210805 pathogenic Pili torti-deafness syndrome 2023-07-11 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796164 SCV005418753 pathogenic Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PM3+PP4

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