ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1388A>G (p.Glu463Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004967334 SCV005528289 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.1388A>G (p.E463G) alteration is located in exon 14 (coding exon 14) of the WDR19 gene. This alteration results from a A to G substitution at nucleotide position 1388, causing the glutamic acid (E) at amino acid position 463 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038883 SCV005665182 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-05-06 criteria provided, single submitter clinical testing

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