ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)

gnomAD frequency: 0.00004  dbSNP: rs770749420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070513 SCV001235762 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg119*) 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 (rs770749420, gnomAD 0.02%). 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: 863524). 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.
Fulgent Genetics, Fulgent Genetics RCV002482133 SCV002791771 likely pathogenic Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2021-09-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001070513 SCV003822160 likely pathogenic not provided 2022-06-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473699 SCV004210795 likely pathogenic Pili torti-deafness syndrome 2023-09-02 criteria provided, single submitter clinical testing

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