ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.24T>G (p.Asn8Lys)

dbSNP: rs1060500635
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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 RCV000469793 SCV000543343 uncertain significance Bloom syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 8 of the BLM protein (p.Asn8Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Counsyl RCV000469793 SCV000795843 uncertain significance Bloom syndrome 2017-11-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000469793 SCV002089877 uncertain significance Bloom syndrome 2020-11-04 no assertion criteria provided clinical testing

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