ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3751+10C>T (rs199685140)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000269179 SCV000394427 uncertain significance Bloom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858797 SCV000623318 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780963 SCV000918656 uncertain significance not specified 2018-10-22 criteria provided, single submitter clinical testing Variant summary: BLM c.3751+10C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00014 in 245720 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BLM causing Bloom Syndrome (0.00014 vs 0.0035), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3751+10C>T in individuals affected with Bloom Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign/likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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