ClinVar Miner

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

dbSNP: rs367543035
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Total submissions: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000005788 SCV000833195 pathogenic Bloom syndrome 2023-10-13 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. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Bloom syndrome (PMID: 7585968, 17407155). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It is commonly reported in individuals of Japanese ancestry (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 5455). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000005788 SCV004210940 pathogenic Bloom syndrome 2022-03-10 criteria provided, single submitter clinical testing
OMIM RCV000005788 SCV000025970 pathogenic Bloom syndrome 1995-11-17 no assertion criteria provided literature only
Natera, Inc. RCV000005788 SCV002089944 pathogenic Bloom syndrome 2017-03-16 no assertion criteria provided clinical testing

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