ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1913A>C (p.Asn638Thr)

gnomAD frequency: 0.00001  dbSNP: rs587778110
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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 RCV000628673 SCV000749579 uncertain significance Bloom syndrome 2022-09-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 638 of the BLM protein (p.Asn638Thr). This variant is present in population databases (rs587778110, gnomAD 0.0009%). 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: 133716). 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. 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 RCV002408625 SCV002723304 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-27 criteria provided, single submitter clinical testing The p.N638T variant (also known as c.1913A>C), located in coding exon 7 of the BLM gene, results from an A to C substitution at nucleotide position 1913. The asparagine at codon 638 is replaced by threonine, an amino acid with similar properties. 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.
ITMI RCV000120249 SCV000084398 not provided not specified 2013-09-19 no assertion provided reference population

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