ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)

gnomAD frequency: 0.00001  dbSNP: rs370948119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813107 SCV001473683 uncertain significance not provided 2019-11-08 criteria provided, single submitter clinical testing The WDR19 c.2093A>C; p.Tyr698Ser variant rs370948119, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The tyrosine at codon 698 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of this variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001373812 SCV001570544 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-04 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 994169). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs370948119, gnomAD 0.007%). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 698 of the WDR19 protein (p.Tyr698Ser).
Fulgent Genetics, Fulgent Genetics RCV002504415 SCV002816732 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-09-22 criteria provided, single submitter clinical testing

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