ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4237del (p.Ser1413fs)

dbSNP: rs1454179023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022111 SCV001183808 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-10 criteria provided, single submitter clinical testing The c.4237delT variant, located in coding exon 21 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 4237, causing a translational frameshift with a predicted alternate stop codon (p.S1413Hfs*26). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of BLM, is not expected to trigger nonsense-mediated mRNA decay, and results in the elongation of the protein by 20 amino acids. The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001827203 SCV002109585 uncertain significance Bloom syndrome 2025-01-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the BLM gene (p.Ser1413Hisfs*26). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the BLM protein and extend the protein by 20 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 824707). 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. RCV001827203 SCV002090675 uncertain significance Bloom syndrome 2020-09-01 no assertion criteria provided clinical testing

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