ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)

dbSNP: rs763407147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002721266 SCV002999510 uncertain significance Imerslund-Grasbeck syndrome 2022-08-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs763407147, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 599 of the CUBN protein (p.Gly599Ser).
Ambry Genetics RCV002721265 SCV003647048 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.1795G>A (p.G599S) alteration is located in exon 15 (coding exon 15) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 1795, causing the glycine (G) at amino acid position 599 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005034386 SCV005671788 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-06-03 criteria provided, single submitter clinical testing

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