ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328269 SCV001449449 likely pathogenic Atypical hemolytic uremic syndrome 2018-10-24 no assertion criteria provided clinical testing This patient is heterozygous for the c.2193del variant in the SMARCAL1 gene. This frameshifting variant is predicted to create a premature stop codon 80 amino acids downstream (p.Phe731Leufs*81), and may result in a null allele due to nonsense-mediated mRNA decay. To our knowledge, this variant has not been previously reported. However, other SMARCAL1 nonsense mutations downstream have been reported in compound heterozygote with another pathogenic SMARCAL1 variant in patients with Schimke immunoosseous dysplasia (Boerkoel et al 2002 Nat Genet 30:215-220), suggesting that the c.2193del variant is likely to be pathogenic.

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