ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.970G>A (p.Gly324Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376693 SCV002692207 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-21 criteria provided, single submitter clinical testing The p.G324R variant (also known as c.970G>A), located in coding exon 7 of the CDH1 gene, results from a G to A substitution at nucleotide position 970. The glycine at codon 324 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003464503 SCV004215635 uncertain significance Familial cancer of breast 2023-09-27 criteria provided, single submitter clinical testing

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