ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.821del (p.Pro274fs)

dbSNP: rs760559534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671907 SCV000796940 likely pathogenic GRACILE syndrome 2018-01-05 criteria provided, single submitter clinical testing
Invitae RCV001383886 SCV001583206 pathogenic not provided 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro274Argfs*26) 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 (rs768595326, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Bjornstad syndrome (PMID: 28105683). ClinVar contains an entry for this variant (Variation ID: 555982). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472142 SCV004210815 pathogenic Pili torti-deafness syndrome 2023-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671907 SCV002076354 pathogenic GRACILE syndrome 2020-05-01 no assertion criteria provided clinical testing

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