ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3778T>G (p.Leu1260Val)

dbSNP: rs2151198289
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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 RCV002013181 SCV002294679 uncertain significance Bloom syndrome 2021-07-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 1260 of the BLM protein (p.Leu1260Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.
Ambry Genetics RCV002346270 SCV002620778 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-23 criteria provided, single submitter clinical testing The p.L1260V variant (also known as c.3778T>G), located in coding exon 19 of the BLM gene, results from a T to G substitution at nucleotide position 3778. The leucine at codon 1260 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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