ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)

gnomAD frequency: 0.00005  dbSNP: rs776471095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246921 SCV001420313 uncertain significance Imerslund-Grasbeck syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 38 of the CUBN protein (p.Asn38Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs776471095, ExAC 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002484384 SCV002783912 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-03-14 criteria provided, single submitter clinical testing

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