ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)

gnomAD frequency: 0.00021  dbSNP: rs533512333
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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 RCV001323807 SCV001514737 uncertain significance Imerslund-Grasbeck syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1568 of the CUBN protein (p.Asp1568Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs533512333, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002504505 SCV002814668 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-03-30 criteria provided, single submitter clinical testing

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