ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2515_2517del (p.Lys839del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002432978 SCV002744292 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-26 criteria provided, single submitter clinical testing The c.2515_2517delAAG variant (also known as p.K839del) is located in coding exon 11 of the BLM gene. This variant results from an in-frame AAG deletion at nucleotide positions 2515 to 2517. This results in the in-frame deletion of a lysine at codon 839. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101913 SCV003483287 uncertain significance Bloom syndrome 2024-04-30 criteria provided, single submitter clinical testing This variant, c.2515_2517del, results in the deletion of 1 amino acid(s) of the BLM protein (p.Lys839del), 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. ClinVar contains an entry for this variant (Variation ID: 1792452). 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.

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