Submissions for variant NM_000057.4(BLM):c.572_573del (p.Arg191fs)

dbSNP: rs2151147628

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001388233	SCV001589140	pathogenic	Bloom syndrome	2024-01-17	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg191Lysfs*4) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV004037694	SCV005023567	pathogenic	Hereditary cancer-predisposing syndrome	2023-12-07	criteria provided, single submitter	clinical testing	The c.572_573delGA pathogenic mutation, located in coding exon 2 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 572 to 573, causing a translational frameshift with a predicted alternate stop codon (p.R191Kfs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.