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

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Total submissions: 3

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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	2018-07-17	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	Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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