ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1388T>G (p.Val463Gly)

dbSNP: rs1555419857
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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 RCV000628638 SCV000749542 uncertain significance Bloom syndrome 2022-03-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 463 of the BLM protein (p.Val463Gly). ClinVar contains an entry for this variant (Variation ID: 524775). 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.

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