ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)

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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 RCV004478241 SCV004979267 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.257C>A (p.T86K) alteration is located in exon 4 (coding exon 4) of the WDR19 gene. This alteration results from a C to A substitution at nucleotide position 257, causing the threonine (T) at amino acid position 86 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023542 SCV005662173 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-04-18 criteria provided, single submitter clinical testing

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