ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) (rs367543033)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000034910 SCV000486723 likely pathogenic Bloom syndrome 2016-07-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000034910 SCV000916684 likely pathogenic Bloom syndrome 2018-08-13 criteria provided, single submitter clinical testing Variant summary: BLM c.3475_3476delTT (p.Leu1159IlefsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4.1e-06 in 246224 control chromosomes (gnomAD). The variant, c.3475_3476delTT, has been reported in the literature in individuals affected with Bloom Syndrome (German_2007). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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