ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.715G>C (p.Asp239His)

dbSNP: rs200756519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540527 SCV000623349 uncertain significance Bloom syndrome 2025-01-01 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 239 of the BLM protein (p.Asp239His). This variant is present in population databases (rs200756519, gnomAD 0.02%). 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: 454163). 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 RCV001026097 SCV001188413 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-11 criteria provided, single submitter clinical testing The p.D239H variant (also known as c.715G>C), located in coding exon 2 of the BLM gene, results from a G to C substitution at nucleotide position 715. The aspartic acid at codon 239 is replaced by histidine, an amino acid with similar properties. In one study, this alteration was identified in a Caucasian patient with early-onset colorectal cancer (DeRycke MS et al. Mol Genet Genomic Med, 2017 Sep;5:553-569). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030681 SCV001193509 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Natera, Inc. RCV000540527 SCV001456983 uncertain significance Bloom syndrome 2020-04-23 no assertion criteria provided clinical testing

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