ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)

gnomAD frequency: 0.00002  dbSNP: rs766029437
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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 RCV001302441 SCV001491650 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-07-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 109 of the WDR19 protein (p.Gly109Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs766029437, ExAC 0.002%). This variant has been observed in individual(s) with Senior-Loken syndrome (PMID: 23683095). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics, Fulgent Genetics RCV002504454 SCV002801301 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-02-18 criteria provided, single submitter clinical testing

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