ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)

gnomAD frequency: 0.00020  dbSNP: rs567310076
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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 RCV001811019 SCV000605598 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing The WDR19 c.3308G>A; p.Arg1103Gln variant (rs567310076), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 440411). This variant is found in the African population with an allele frequency of 0.070% (16/22970 alleles) in the Genome Aggregation Database. The arginine at codon 1103 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg1103Gln variant is uncertain at this time.
Invitae RCV001227801 SCV001400176 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481645 SCV002791264 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-03-09 criteria provided, single submitter clinical testing

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