ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1137G>T (p.Thr379=)

dbSNP: rs587783050
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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 RCV003328468 SCV000864594 likely pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-30 reviewed by expert panel curation The c.1137G>T p. (Thr379=) variant results in a G to non-G change at the last nucleotide of an exon (PVS1_Moderate). The variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant affects the same splice site as a well-characterized splice variant with similar or worse in silico/ RNA predictions (PP3_Moderate). Additionally, this variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; PMID: 26182300). In summary, this variant meets criteria to be classified as likely pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): PVS1_Moderate, PM2_Supporting, PP3_Moderate, PS4_Supporting.
Myriad Genetics, Inc. RCV003336166 SCV004044980 likely pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-13 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [Myriad internal data].

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