ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2572A>G (p.Asn858Asp)

dbSNP: rs1555422355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546813 SCV000623278 uncertain significance Bloom syndrome 2017-04-12 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BLM-related disease. This sequence change replaces asparagine with aspartic acid at codon 858 of the BLM protein (p.Asn858Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
GeneDx RCV004760553 SCV005371608 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000546813 SCV002088088 uncertain significance Bloom syndrome 2020-08-07 no assertion criteria provided clinical testing

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