ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys)

dbSNP: rs1060500648
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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 RCV000471638 SCV000543380 uncertain significance Bloom syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 1331 of the BLM protein (p.Arg1331Lys). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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. 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 RCV002248668 SCV002517939 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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