ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.625_626del (p.Ile209fs)

dbSNP: rs863223915
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199046 SCV000251197 pathogenic not provided 2014-09-03 criteria provided, single submitter clinical testing c.625_626delAT: p.Ile209ArgfsX2 in exon 5 in the BCS1L gene (NM_004328.4). The normal sequence with the bases that are deleted in braces is: ATTC{AT}CGAT. The c.625_626delAT mutation in the BCS1L gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.625_626delAT mutation causes a frameshift starting with codon Isoleucine 209, changes this amino acid to aArginine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Ile209ArgfsX2. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.625_626delAT mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.625_626delAT as a disease-causing mutation. This varaint has been observed to be paternally inherited. The variant is found in BCS1L, panel(s).

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