ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1633-6T>A

dbSNP: rs886061522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398175 SCV000463778 uncertain significance Focal segmental glomerulosclerosis 3, susceptibility to 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861284 SCV002274764 uncertain significance not provided 2021-02-14 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the CD2AP gene. It does not directly change the encoded amino acid sequence of the CD2AP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CD2AP-related conditions. ClinVar contains an entry for this variant (Variation ID: 357177). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003409555 SCV004107515 uncertain significance CD2AP-related disorder 2023-06-29 criteria provided, single submitter clinical testing The CD2AP c.1633-6T>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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