ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr)

dbSNP: rs1567058281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709369 SCV000838981 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601260 SCV005101890 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-18 criteria provided, single submitter clinical testing The p.N1022T variant (also known as c.3065A>C), located in coding exon 15 of the BLM gene, results from an A to C substitution at nucleotide position 3065. The asparagine at codon 1022 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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