ClinVar Miner

Submissions for variant NM_000057.3(BLM):c.2362C>A (p.Leu788Ile) (rs149754073)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564057 SCV000672895 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
GeneDx RCV000115292 SCV000149201 uncertain significance not provided 2014-02-06 criteria provided, single submitter clinical testing Single pathogenic variants in BLM have only recently been described in association with cancer predisposition and the risks are not well understood. This variant is denoted BLM c.2362C>A at the cDNA level, p.Leu788Ile (L788I) at the protein level, and results in the change of a Leucine to an Isoleucine (CTC>ATC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BLM Leu788Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one neutral non-polar amino acid for another, altering a position that is well conserved throughout evolution and is located in a Helicase ATP-Binding/DEAH domain. Multiple in silico algorithms predict that this variant may be damaging to protein structure and function. On a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and with single variants in the BLM gene in general, remain unclear.
Invitae RCV000459553 SCV000555825 likely benign Bloom syndrome 2017-12-15 criteria provided, single submitter clinical testing

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