ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.696del (p.Gly233fs)

gnomAD frequency: 0.00001  dbSNP: rs775388576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383446 SCV001582594 pathogenic not provided 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly233Valfs*22) 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 (rs775388576, gnomAD 0.009%). 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: 1028218). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002486327 SCV002791032 likely pathogenic Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2021-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546308 SCV003552515 pathogenic Inborn genetic diseases 2022-07-28 criteria provided, single submitter clinical testing The c.696delT (p.G233Vfs*22) alteration, located in exon 6 (coding exon 4) of the BCS1L gene, consists of a deletion of one nucleotide at position 696, causing a translational frameshift with a predicted alternate stop codon after 22 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV003473864 SCV004210824 pathogenic Pili torti-deafness syndrome 2024-03-24 criteria provided, single submitter clinical testing

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