ClinVar Miner

Submissions for variant NC_000015.10:g.90747491G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826134 SCV000967654 pathogenic Bloom syndrome 2018-07-18 criteria provided, single submitter clinical testing The c.98+1G>C variant in BLM has not been reported individuals with Bloom syndro me, but another variant at the same nucleotide position (c.98+1G>T) has been rep orted in the compound heterozygous state in 1 individual with Bloom syndrome (Ge rman 2007). A third variant at this nucleotide position (c.98+1G>A) has been rep orted to segregate with cancer risk in a single pedigree (de Voer 2015). This va riant has been identified in 7/113042 European chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs750293380). Thi s variant occurs in the invariant region (+/- 1/2) of the splice consensus seque nce and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the BLM gene is an established disease mechanism in autosomal recessive Bloom syndrome. In summary, the c.98+1G>C variant meets cri teria to be classified as pathogenic for Bloom syndrome in an autosomal recessiv e manner. ACMG/AMP criteria applied: PVS1_Strong, PM5, PM2

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