ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2362C>T (p.Leu788Phe)

dbSNP: rs149754073
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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 RCV001068821 SCV001233953 uncertain significance Bloom syndrome 2024-12-02 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 788 of the BLM protein (p.Leu788Phe). This variant is present in population databases (rs149754073, gnomAD 0.02%). 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: 862151). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV003160567 SCV003892107 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-10 criteria provided, single submitter clinical testing The p.L788F variant (also known as c.2362C>T), located in coding exon 10 of the BLM gene, results from a C to T substitution at nucleotide position 2362. The leucine at codon 788 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001068821 SCV001454853 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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