ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.1459C>T (p.Arg487Cys)

gnomAD frequency: 0.00019  dbSNP: rs149784122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001122411 SCV001281125 likely benign Renal tubular dysgenesis 2017-05-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV003727875 SCV004522465 likely benign not provided 2023-05-27 criteria provided, single submitter clinical testing

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