ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.*1691G>T

gnomAD frequency: 0.00006  dbSNP: rs373181046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328329 SCV001365428 benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-08 reviewed by expert panel curation The NM_004360.5(CDH1):c.*1691G>T variant has an allele frequency of 0.01252 (1.252%, 38/3036 alleles) in the South Asian subpopulation of the gnomAD v3 cohort (BA1). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1.
Illumina Laboratory Services, Illumina RCV000382116 SCV000398617 benign Hereditary diffuse gastric adenocarcinoma 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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