ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1913A>G (p.Asn638Ser)

dbSNP: rs587778110
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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 RCV000470527 SCV000543383 uncertain significance Bloom syndrome 2024-02-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 638 of the BLM protein (p.Asn638Ser). This variant is not present in population databases (gnomAD no frequency). 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: 405319). 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.
Counsyl RCV000470527 SCV000795255 uncertain significance Bloom syndrome 2017-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948310 SCV005544601 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-02 criteria provided, single submitter clinical testing The p.N638S variant (also known as c.1913A>G), located in coding exon 7 of the BLM gene, results from an A to G substitution at nucleotide position 1913. The asparagine at codon 638 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000470527 SCV002088012 uncertain significance Bloom syndrome 2020-10-13 no assertion criteria provided clinical testing

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