ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro)

dbSNP: rs587778103
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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 RCV002514625 SCV003004784 uncertain significance Bloom syndrome 2022-03-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 133704). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1357 of the BLM protein (p.Ala1357Pro).
ITMI RCV000120233 SCV000084381 not provided not specified 2013-09-19 no assertion provided reference population

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