ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)

gnomAD frequency: 0.00006  dbSNP: rs371744495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226106 SCV001398404 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 373 of the WDR19 protein (p.Ala373Gly). This variant is present in population databases (rs371744495, 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: 953767). 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 with a negative predictive value of 80%. 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 RCV002497769 SCV002805567 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562608 SCV003723765 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.1118C>G (p.A373G) alteration is located in exon 11 (coding exon 11) of the WDR19 gene. This alteration results from a C to G substitution at nucleotide position 1118, causing the alanine (A) at amino acid position 373 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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