ClinVar Miner

Submissions for variant NM_000477.7(ALB):c.228_229del (p.Val78fs) (rs75152012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008820 SCV001168622 pathogenic not provided 2018-09-19 criteria provided, single submitter clinical testing The c.228_229delAT variant in the ALB gene, known as the Kayseri variant, has been reported previously in the homozygous state in multiple unrelated individuals with congenital analbuminemia (Galliano et al., 2002). The c.228_229delAT variant causes a frameshift starting with codon Valine 78, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Val78CysfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.228_229delAT variant is observed in 5/30,782 (0.016%) alleles from individuals of South Asian background in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). We interpret c.228_229delAT as a pathogenic variant.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144403 SCV000189458 not provided Analbuminemia no assertion provided not provided

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