ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2205A>T (p.Thr735=)

dbSNP: rs757134420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014721 SCV001175466 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing The c.2205A>T variant (also known as p.T735T), located in coding exon 9, results from an A to T substitution at nucleotide position 2205 of the BLM gene. This nucleotide substitution does not change the amino acid at codon 735. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769468 SCV004622567 likely benign Bloom syndrome 2023-07-10 criteria provided, single submitter clinical testing

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