ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys)

dbSNP: rs1555425441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665192 SCV000789266 uncertain significance Bloom syndrome 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331302 SCV002632906 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-30 criteria provided, single submitter clinical testing The c.4252T>A variant (also known as p.*1418Kext*17), located in coding exon 21 of the BLM gene, results from a T to A substitution at nucleotide position 4252. This alteration disrupts the stop codon of the BLM gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 17 amino acids. The exact functional effect of the additional amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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