ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) (rs746244182)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409376 SCV000486590 likely pathogenic Bloom syndrome 2016-06-28 criteria provided, single submitter clinical testing
Invitae RCV000409376 SCV000749523 pathogenic Bloom syndrome 2020-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr494Profs*9) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746244182, ExAC 0.002%). This variant has not been reported in the literature in individuals with BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 371108). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001011718 SCV001172073 pathogenic Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing The c.1479_1480delTA pathogenic mutation, located in coding exon 6 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 1479 to 1480, causing a translational frameshift with a predicted alternate stop codon (p.T494Pfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Natera, Inc. RCV000409376 SCV001460783 pathogenic Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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