ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.664C>G (p.Pro222Ala)

gnomAD frequency: 0.00001  dbSNP: rs757241775
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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 RCV001320000 SCV001510770 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 222 of the WDR19 protein (p.Pro222Ala). This variant is present in population databases (rs757241775, gnomAD 0.007%). 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: 1020422). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002476497 SCV002786730 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-03-23 criteria provided, single submitter clinical testing

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