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

gnomAD frequency: 0.00005  dbSNP: rs75152012

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001008820	SCV001168622	pathogenic	not provided	2023-01-19	criteria provided, single submitter	clinical testing	Common recurrent variant located in a hypermutable region and also known as the Kayseri variant, accounting for up to 1/3 of patients with analbuminemia (Caridi et al., 2016; Caridi et al., 2018; Minchiotti et al., 2019); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22227324, 20638375, 34426522, 29981851, 27346974, 34662886, 12028999)
Invitae	RCV001008820	SCV002244473	pathogenic	not provided	2023-06-29	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 156319). This variant is also known as Kayseri and 2430_2431del. This premature translational stop signal has been observed in individual(s) with analbuminemia (PMID: 12028999, 18459107). This variant is present in population databases (rs75152012, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Val78Cysfs*2) in the ALB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALB are known to be pathogenic (PMID: 12028999).
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000144403	SCV000189458	not provided	Analbuminemia		no assertion provided	not provided