ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1856_1858del (p.Phe619del)

dbSNP: rs1555419996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531736 SCV000623251 uncertain significance Bloom syndrome 2024-12-28 criteria provided, single submitter clinical testing This variant, c.1856_1858del, results in the deletion of 1 amino acid(s) of the BLM protein (p.Phe619del), 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: 454088). 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.
Ambry Genetics RCV000562774 SCV000672969 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-14 criteria provided, single submitter clinical testing The c.1856_1858delTCT variant (also known as p.F619del) is located in coding exon 6 of the BLM gene. This variant results from an in-frame TCT deletion at nucleotide positions 1856 to 1858. This results in the in-frame deletion of a phenylalanine at codon 619. The deleted amino acid position is not well 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.
Natera, Inc. RCV000531736 SCV002092402 uncertain significance Bloom syndrome 2018-06-19 no assertion criteria provided clinical testing

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