ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) (rs367543035)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005788 SCV000486617 pathogenic Bloom syndrome 2016-07-06 criteria provided, single submitter clinical testing
Invitae RCV000005788 SCV000833195 pathogenic Bloom syndrome 2018-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser186*) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous or on the opposite chromosome from a pathogenic variant in individuals affected with Bloom syndrome (PMID: 17407155, 7585968). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has also been reported as a recurrent founder mutation in individuals affected with Bloom syndrome of Japanese origin (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 5455). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005788 SCV000025970 pathogenic Bloom syndrome 1995-11-17 no assertion criteria provided literature only

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