ClinVar Miner

Submissions for variant NM_000477.7(ALB):c.412C>T (p.Arg138Ter) (rs77238412)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000144404 SCV000711778 pathogenic Analbuminemia 2016-03-02 criteria provided, single submitter clinical testing The p.Arg138X variant in ALB has been reported in 2 homozygous individuals with congenital analbuminemia Watkins 1994, Campagnoli 2005). This variant has also b een identified in 1/66370 of European chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs77238412). Although this v ariant has been seen in the general population, its frequency is low enough to b e consistent with a recessive carrier frequency. This nonsense variant leads to a premature termination codon at position 138, which is predicted to lead to a t runcated or absent protein. In summary, this variant meets our criteria to be cl assified as pathogenic for congenital analbuminemia in an autosomal recessive ma nner based upon reports in affected individuals and predicted functional impact on the protein.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144404 SCV000189459 not provided Analbuminemia no assertion provided not provided
OMIM RCV000144404 SCV001683260 pathogenic Analbuminemia 1994-03-15 no assertion criteria provided literature only

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