ClinVar Miner

Submissions for variant NM_000477.7(ALB):c.1195G>A (p.Asp399Asn)

gnomAD frequency: 0.00016  dbSNP: rs77514449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556052 SCV004281544 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALB protein function. ClinVar contains an entry for this variant (Variation ID: 18199). This variant has not been reported in the literature in individuals affected with ALB-related conditions. This variant is present in population databases (rs77514449, gnomAD 0.05%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 399 of the ALB protein (p.Asp399Asn).
OMIM RCV000019846 SCV000040144 other ALBUMIN NAGASAKI 2 2019-07-18 no assertion criteria provided literature only

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