ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)

dbSNP: rs751386429
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002515238 SCV003262260 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 926 of the WDR19 protein (p.Ser926Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa and cone-rod dystrophy (PMID: 26355662). ClinVar contains an entry for this variant (Variation ID: 191190). 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989482 SCV004806004 uncertain significance Nephronophthisis 13 2024-03-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815270 SCV005070076 likely pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031700 SCV005665233 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-01-08 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171376 SCV000221573 likely pathogenic not provided flagged submission research

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