ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3362G>A (p.Ser1121Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003071935 SCV003459660 uncertain significance Bloom syndrome 2022-07-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is present in population databases (rs758753168, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1121 of the BLM protein (p.Ser1121Asn).
Ambry Genetics RCV004948956 SCV005544567 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-08 criteria provided, single submitter clinical testing The p.S1121N variant (also known as c.3362G>A), located in coding exon 17 of the BLM gene, results from a G to A substitution at nucleotide position 3362. The serine at codon 1121 is replaced by asparagine, 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.

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