ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del)

dbSNP: rs587782476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989616 SCV001140126 likely benign Hereditary diffuse gastric adenocarcinoma 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989616 SCV002125433 uncertain significance Hereditary diffuse gastric adenocarcinoma 2021-08-31 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. This variant has been observed in individual(s) with gastric cancer (PMID: 23431106). While this variant is present in population databases (rs761309816), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.44_46del, results in the deletion of 1 amino acid(s) of the CDH1 protein (p.Leu15del), but otherwise preserves the integrity of the reading frame.

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