ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.457G>C (p.Asp153His)

gnomAD frequency: 0.00004  dbSNP: rs368158276
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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 RCV000557191 SCV000623339 uncertain significance Bloom syndrome 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 153 of the BLM protein (p.Asp153His). This variant is present in population databases (rs368158276, gnomAD 0.01%). 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: 454155). 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 disruptive. 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.
Ambry Genetics RCV002341244 SCV002638568 likely benign Hereditary cancer-predisposing syndrome 2024-05-29 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.
Natera, Inc. RCV000557191 SCV002089931 uncertain significance Bloom syndrome 2018-11-12 no assertion criteria provided clinical testing

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