ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.764dup (p.Ser256fs)

gnomAD frequency: 0.00001  dbSNP: rs776297606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197381 SCV001368101 likely pathogenic Focal segmental glomerulosclerosis 3, susceptibility to 2019-06-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in homozygous state.
Invitae RCV001383450 SCV001582599 pathogenic not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser256Glufs*12) in the CD2AP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CD2AP are known to be pathogenic (PMID: 10514378, 12764198, 17713465, 19131354, 30612599, 34408996). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CD2AP-related conditions. ClinVar contains an entry for this variant (Variation ID: 931125). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001197381 SCV002804211 likely pathogenic Focal segmental glomerulosclerosis 3, susceptibility to 2022-05-12 criteria provided, single submitter clinical testing

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