ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)

dbSNP: rs1555418301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667310 SCV000791741 uncertain significance Bloom syndrome 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016267 SCV001177205 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-26 criteria provided, single submitter clinical testing The c.267_269delCTT variant (also known as p.F90del) is located in coding exon 2 of the BLM gene. This variant results from an in-frame CTT deletion at nucleotide positions 267 to 269. This results in the in-frame deletion of a phenylalanine at codon 90. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000667310 SCV002186875 uncertain significance Bloom syndrome 2022-03-04 criteria provided, single submitter clinical testing This variant, c.267_269del, results in the deletion of 1 amino acid(s) of the BLM protein (p.Phe90del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000667310 SCV002089906 uncertain significance Bloom syndrome 2020-08-20 no assertion criteria provided clinical testing

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