ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1230_1231delinsAA (p.Leu411Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004516614 SCV005021952 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-08 criteria provided, single submitter clinical testing The c.1230_1231delTCinsAA variant (also known as p.L411I), located in coding exon 6 of the BLM gene, results from an in-frame deletion of TC and insertion of AA at nucleotide positions 1230 to 1231. This results in the substitution of the leucine residue for an isoleucine residue at codon 411, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (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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