ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)

gnomAD frequency: 0.00001  dbSNP: rs751139014
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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 RCV001067722 SCV001232794 uncertain significance Imerslund-Grasbeck syndrome 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 669 of the CUBN protein (p.Ser669Pro). This variant is present in population databases (rs751139014, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 861245). 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"). 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 RCV002482116 SCV002778563 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-05-03 criteria provided, single submitter clinical testing

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