ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.264C>A (p.Asp88Glu)

gnomAD frequency: 0.00001  dbSNP: rs757984551
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572396 SCV000672934 likely benign Hereditary cancer-predisposing syndrome 2024-05-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000812053 SCV000952355 uncertain significance Bloom syndrome 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 88 of the BLM protein (p.Asp88Glu). This variant is present in population databases (rs757984551, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 485329). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Fulgent Genetics, Fulgent Genetics RCV000812053 SCV002792888 uncertain significance Bloom syndrome 2022-05-12 criteria provided, single submitter clinical testing
GeneDx RCV003329312 SCV004036281 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24434212, Kaysen2022[somatic], 35495117)
Natera, Inc. RCV000812053 SCV002089907 uncertain significance Bloom syndrome 2018-10-23 no assertion criteria provided clinical testing

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