ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)

gnomAD frequency: 0.00002  dbSNP: rs779746222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015260 SCV001176076 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-11 criteria provided, single submitter clinical testing The p.Y784N variant (also known as c.2350T>A), located in coding exon 10 of the BLM gene, results from a T to A substitution at nucleotide position 2350. The tyrosine at codon 784 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001275697 SCV003457767 uncertain significance Bloom syndrome 2024-07-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 784 of the BLM protein (p.Tyr784Asn). This variant is present in population databases (rs779746222, 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: 821139). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function with a negative predictive value of 80%. 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153885 SCV003843450 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275697 SCV001461104 uncertain significance Bloom syndrome 2018-10-16 no assertion criteria provided clinical testing

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