ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.716A>C (p.Asp239Ala)

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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 RCV003013931 SCV003310771 uncertain significance Bloom syndrome 2022-02-10 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 239 of the BLM protein (p.Asp239Ala). This variant is not present in population databases (gnomAD no frequency).

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