ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) (rs758692622)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628681 SCV000749587 uncertain significance Bloom syndrome 2018-05-02 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 854 of the BLM protein (p.Ser854Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs758692622, ExAC 0.009%). This variant has not been reported in the literature in individuals with BLM-related disease. 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.
Mendelics RCV000628681 SCV000838974 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing

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