ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val)

dbSNP: rs2131430542
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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 RCV001983848 SCV002279429 uncertain significance Imerslund-Grasbeck syndrome 2022-04-04 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 2639 of the CUBN protein (p.Asp2639Val).
Fulgent Genetics, Fulgent Genetics RCV002492271 SCV002790952 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-02-08 criteria provided, single submitter clinical testing

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