ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)

gnomAD frequency: 0.00006  dbSNP: rs369629509
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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 RCV000543071 SCV000623298 benign Bloom syndrome 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018398 SCV001179632 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-15 criteria provided, single submitter clinical testing The p.N1021S variant (also known as c.3062A>G), located in coding exon 15 of the BLM gene, results from an A to G substitution at nucleotide position 3062. The asparagine at codon 1021 is replaced by serine, an amino acid with highly 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.
Natera, Inc. RCV000543071 SCV002090511 uncertain significance Bloom syndrome 2018-08-31 no assertion criteria provided clinical testing

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