ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3181G>T (p.Val1061Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002843077 SCV003211888 uncertain significance Bloom syndrome 2022-06-30 criteria provided, single submitter clinical testing This variant is also known as G3181T at codon 1036. This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1061 of the BLM protein (p.Val1061Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Bloom syndrome (PMID: 9285778). 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"). Studies have shown that this missense change alters BLM gene expression (PMID: 9285778). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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