ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser)

gnomAD frequency: 0.00001  dbSNP: rs1035768119
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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 RCV000653251 SCV000775127 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-07-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 542762). This missense change has been observed in individual(s) with clinical features of WDR19-related conditions (Invitae). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 1270 of the WDR19 protein (p.Cys1270Ser). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV002499125 SCV002787477 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-02-04 criteria provided, single submitter clinical testing

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