ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe)

dbSNP: rs778515103
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994404 SCV002267781 uncertain significance Bloom syndrome 2021-01-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1004 of the BLM protein (p.Leu1004Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs778515103, ExAC 0.002%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BLM-related conditions.
Ambry Genetics RCV004603126 SCV005100097 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-04 criteria provided, single submitter clinical testing The p.L1004F variant (also known as c.3010C>T), located in coding exon 14 of the BLM gene, results from a C to T substitution at nucleotide position 3010. The leucine at codon 1004 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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