ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)

gnomAD frequency: 0.00008  dbSNP: rs772687020
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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 RCV001067543 SCV001232610 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 720 of the WDR19 protein (p.Asn720Ser). This variant is present in population databases (rs772687020, gnomAD 0.009%). 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: 861102). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276610 SCV002567158 uncertain significance Connective tissue disorder 2019-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482113 SCV002779091 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-09-22 criteria provided, single submitter clinical testing

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