Submissions for variant NM_000057.4(BLM):c.3210+4A>G

gnomAD frequency: 0.00001  dbSNP: rs776621429

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234518	SCV000283132	likely benign	Bloom syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Counsyl	RCV000234518	SCV000789670	uncertain significance	Bloom syndrome	2017-02-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019264	SCV001180596	uncertain significance	Hereditary cancer-predisposing syndrome	2023-07-03	criteria provided, single submitter	clinical testing	The c.3210+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 15 in the BLM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics	RCV000234518	SCV001482837	uncertain significance	Bloom syndrome	2020-11-09	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002478830	SCV002774439	uncertain significance	not provided	2022-12-03	criteria provided, single submitter	clinical testing	To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00052 (14/27058 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BLM mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics	RCV000234518	SCV002785791	uncertain significance	Bloom syndrome	2022-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV002478830	SCV004024054	uncertain significance	not provided	2023-02-06	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Natera, Inc.	RCV000234518	SCV002090528	uncertain significance	Bloom syndrome	2018-05-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897511	SCV004714767	likely benign	BLM-related disorder	2020-12-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).