ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2T>C (p.Met1Thr)

dbSNP: rs1057516593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412038 SCV000485917 likely pathogenic Bloom syndrome 2016-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168589 SCV003855047 likely pathogenic Hereditary cancer-predisposing syndrome 2023-01-12 criteria provided, single submitter clinical testing The p.M1? variant (also known as c.2T>C) is located in coding exon 1 of the BLM gene and results from a T to C substitution at nucleotide position 2. This alters the methionine residue at the initiation codon (ATG). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. Sequence variations that modify the initiation codon are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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