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: 4
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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.
Labcorp Genetics (formerly Invitae), Labcorp 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 2024-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965520 SCV005528287 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.3308G>A (p.R1103Q) alteration is located in exon 30 (coding exon 30) of the WDR19 gene. This alteration results from a G to A substitution at nucleotide position 3308, causing the arginine (R) at amino acid position 1103 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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