ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1432G>A (p.Gly478Arg)

gnomAD frequency: 0.00001  dbSNP: rs1490929990
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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 RCV001350489 SCV001544889 uncertain significance Bloom syndrome 2021-09-10 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 478 of the BLM protein (p.Gly478Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
Natera, Inc. RCV001350489 SCV002090037 uncertain significance Bloom syndrome 2021-08-24 no assertion criteria provided clinical testing

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