ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2691C>T (p.Ser897=)

gnomAD frequency: 0.00001  dbSNP: rs756155242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460536 SCV000555828 likely benign Bloom syndrome 2024-12-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256283 SCV002529459 likely benign Hereditary cancer-predisposing syndrome 2021-01-26 criteria provided, single submitter curation
Ambry Genetics RCV002256283 SCV002562883 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-12 criteria provided, single submitter clinical testing The c.2691C>T variant (also known as p.S897S), located in coding exon 13 of the BLM gene, results from a C to T substitution at nucleotide position 2691. This nucleotide substitution does not change the amino acid at codon 897. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000460536 SCV002088104 likely benign Bloom syndrome 2018-11-15 no assertion criteria provided clinical testing

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