ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala)

dbSNP: rs780012075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593592 SCV000709304 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001323562 SCV001514482 uncertain significance Imerslund-Grasbeck syndrome 2021-07-12 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1357 of the CUBN protein (p.Pro1357Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs780012075, ExAC 0.01%). This variant has not been reported in the literature in individuals with CUBN-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002476340 SCV002780736 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-23 criteria provided, single submitter clinical testing

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