ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.197A>G (p.Asn66Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004951179 SCV005544523 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-26 criteria provided, single submitter clinical testing The p.N66S variant (also known as c.197A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 197. The asparagine at codon 66 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005110037 SCV005788054 uncertain significance Bloom syndrome 2024-07-17 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 66 of the BLM protein (p.Asn66Ser). 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. 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 tolerated. 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.

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