ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.719A>G (p.Asp240Gly)

dbSNP: rs757324067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030682 SCV001193510 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001034932 SCV001198235 uncertain significance Bloom syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 240 of the BLM protein (p.Asp240Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs757324067, ExAC 0.01%). 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. RCV001034932 SCV001456646 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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