ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1796C>T (p.Ala599Val)

gnomAD frequency: 0.00011  dbSNP: rs193273000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037994 SCV001201434 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 599 of the WDR19 protein (p.Ala599Val). This variant is present in population databases (rs193273000, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 836791). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WDR19 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002489549 SCV002780586 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551402 SCV003655345 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.1796C>T (p.A599V) alteration is located in exon 17 (coding exon 17) of the WDR19 gene. This alteration results from a C to T substitution at nucleotide position 1796, causing the alanine (A) at amino acid position 599 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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