ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1468C>T (p.Pro490Ser)

dbSNP: rs1567041087
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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 RCV000706973 SCV000836049 uncertain significance Bloom syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 490 of the BLM protein (p.Pro490Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. 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. 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.
Natera, Inc. RCV000706973 SCV002090040 uncertain significance Bloom syndrome 2021-07-24 no assertion criteria provided clinical testing

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