ClinVar Miner

Submissions for variant NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu)

gnomAD frequency: 0.00001  dbSNP: rs553635114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808177 SCV002058730 likely pathogenic Renal hypomagnesemia 5 with ocular involvement 2022-01-03 criteria provided, single submitter clinical testing The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 22422540, PM3_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.859, 3CNET: 0.86, PP3_P). A missense variant is a common mechanism associated with Hypomagnesemia 5 (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000005, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV001808177 SCV002788174 likely pathogenic Renal hypomagnesemia 5 with ocular involvement 2024-04-17 criteria provided, single submitter clinical testing

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