Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604032 | SCV000712099 | uncertain significance | not specified | 2016-05-16 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg240Trp variant in ALAD has been reported in one individual with ALAD deficiency porphy ria in the compound heterozygous state (Ishida 1992), although the second varian t identified did not have sufficient evidence to be classified as pathogenic eit her. This variant has been identified 1/121212 of chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs121912982). Alt hough this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. In vitro functional studies provide some evidence that the p.Arg240Trp variant may impact protein f unction (Ishida 1992, Maruno 2001); however, these types of assays may not accur ately represent biological function. In summary, the p.Arg240Trp variant is of uncertain significance.. |
OMIM | RCV000018361 | SCV000038640 | pathogenic | Porphobilinogen synthase deficiency | 1992-05-01 | no assertion criteria provided | literature only |