ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1982+2T>C

gnomAD frequency: 0.00001  dbSNP: rs780847651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688346 SCV000815952 likely pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-11-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the WDR19 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 568100). Disruption of this splice site has been observed in individual(s) with clinical features of WDR19-related conditions (PMID: 31054281). This variant is present in population databases (rs780847651, gnomAD 0.02%).
Fulgent Genetics, Fulgent Genetics RCV005034296 SCV005665197 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-01-23 criteria provided, single submitter clinical testing

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