ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2270AAG[1] (p.Glu758del)

dbSNP: rs876661070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219405 SCV000279450 uncertain significance not provided 2015-09-24 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in CDH1 is denoted c.2273_2275delAAG at the cDNA level and p.Glu758del (E758del) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAG[AAG]GAGG. This deletion of a single Glutamic Acid residue occurs at a position that is conserved across species and is located within cytoplasmic domain and the binding domains of multiple proteins (Brooks-Wilson 2004, Figueiredo 2013, UniProt). This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider CDH1 Glu758del to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001214525 SCV001386209 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-03-26 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 234536). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2273_2275del, results in the deletion of 1 amino acid(s) of the CDH1 protein (p.Glu758del), but otherwise preserves the integrity of the reading frame.
Baylor Genetics RCV004567680 SCV005060080 uncertain significance Familial cancer of breast 2024-02-18 criteria provided, single submitter clinical testing

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