ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln)

dbSNP: rs1897234496
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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 RCV001211247 SCV001382776 uncertain significance Bloom syndrome 2022-07-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 941463). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1212 of the BLM protein (p.Glu1212Gln). This variant is not present in population databases (gnomAD 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.
Natera, Inc. RCV001211247 SCV002090592 uncertain significance Bloom syndrome 2021-09-30 no assertion criteria provided clinical testing

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