ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1673C>T (p.Ala558Val)

gnomAD frequency: 0.00074  dbSNP: rs146444716
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350207 SCV000463780 likely benign Focal segmental glomerulosclerosis 3, susceptibility to 2017-04-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522041 SCV001731502 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001522041 SCV004163583 benign not provided 2023-04-01 criteria provided, single submitter clinical testing CD2AP: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001522041 SCV005226088 likely benign not provided criteria provided, single submitter not provided

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