ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)

gnomAD frequency: 0.00014  dbSNP: rs368630481
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246135 SCV001419475 uncertain significance Imerslund-Grasbeck syndrome 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 453 of the CUBN protein (p.Ser453Tyr). This variant is present in population databases (rs368630481, 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: 970549). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV002504359 SCV002816670 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294149 SCV003996893 uncertain significance Inborn genetic diseases 2023-03-28 criteria provided, single submitter clinical testing The c.1358C>A (p.S453Y) alteration is located in exon 12 (coding exon 12) of the CUBN gene. This alteration results from a C to A substitution at nucleotide position 1358, causing the serine (S) at amino acid position 453 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003414065 SCV004126503 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing CUBN: PM2

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