ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe)

dbSNP: rs959925706
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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 RCV001021485 SCV001183110 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-07 criteria provided, single submitter clinical testing The p.L1315F variant (also known as c.3943C>T), located in coding exon 20 of the BLM gene, results from a C to T substitution at nucleotide position 3943. The leucine at codon 1315 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001368969 SCV001565394 uncertain significance Bloom syndrome 2022-10-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1315 of the BLM protein (p.Leu1315Phe). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 824406). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function. 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. RCV001368969 SCV002090630 uncertain significance Bloom syndrome 2020-03-18 no assertion criteria provided clinical testing

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