ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2560A>G (p.Ser854Gly)

gnomAD frequency: 0.00001  dbSNP: rs752969832
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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 RCV001943867 SCV002194841 uncertain significance Bloom syndrome 2021-06-21 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is present in population databases (rs752969832, ExAC 0.03%). This sequence change replaces serine with glycine at codon 854 of the BLM protein (p.Ser854Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine.

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