ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del)

dbSNP: rs1555419934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665891 SCV000790087 uncertain significance Bloom syndrome 2017-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163059 SCV003863720 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-21 criteria provided, single submitter clinical testing The c.1634_1639delGAGAAA variant (also known as p.R545_E546del) is located in coding exon 6 of the BLM gene. This variant results from an in-frame GAGAAA deletion at nucleotide positions 1634 to 1639. This results in the in-frame deletion of 2 amino acids (RE) at codons 545 to 546. These amino acid positions are not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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