ClinVar Miner

Submissions for variant NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)

gnomAD frequency: 0.00001  dbSNP: rs121912982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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

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