ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.512C>T (p.Thr171Met)

gnomAD frequency: 0.00002  dbSNP: rs777646123
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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 RCV001873053 SCV002138592 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-08-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs777646123, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 1372536). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WDR19 protein function. 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. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 171 of the WDR19 protein (p.Thr171Met).
Fulgent Genetics, Fulgent Genetics RCV002506930 SCV002805570 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-09-21 criteria provided, single submitter clinical testing

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