ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)

dbSNP: rs1560503998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591894 SCV001816039 uncertain significance Cone dystrophy 2021-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501945 SCV002776363 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571162 SCV003006997 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-06-17 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1213951). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 488 of the WDR19 protein (p.Leu488Phe).

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