ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs)

dbSNP: rs2109526590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001928655 SCV002189755 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-03-29 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the WDR19 gene (p.Leu1336Glyfs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the WDR19 protein and extend the protein by 23 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WDR19-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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