ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1968dup (p.Lys657fs) (rs772785079)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586500 SCV000694475 likely pathogenic Bloom syndrome 2016-10-24 criteria provided, single submitter clinical testing Variant summary: The BLM c.1968dupG (p.Lys657Glufs) variant results in a premature termination codon, predicted to cause a truncated or absent BLM protein due to nonsense mediated decay (NMD), which are commonly known mechanisms for disease. If NMD is escaped, this variant is predicted to truncate several domains, namely ATP-binding, helicase, RQC, HRDC, P-loop containing nucleoside triphosphate hydrolase, zinc-binding and winged helix-turn-helix DNA-binding domains (InterPro). Truncations downstream of this position have been reported in patients with Bloom syndrome (c.3223dupA, c.3255_3256insT, etc.; German_2007). This variant was found in 1/121168 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BLM variant (0.0035355). This variant has been reported in one patient with Bloom syndrome in homozygous state born to consanguineous parents (German_2007). Taken together, this variant is classified as likely pathogenic unitl more information becomes available.
Ambry Genetics RCV001013870 SCV001174506 pathogenic Hereditary cancer-predisposing syndrome 2019-06-07 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000586500 SCV001132141 likely pathogenic Bloom syndrome 2015-03-16 no assertion criteria provided clinical testing

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