ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)

gnomAD frequency: 0.00017  dbSNP: rs201967816
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klinisk genetik och genomik Research, Gothenburg University RCV000985264 SCV000995970 uncertain significance Craniosynostosis syndrome 2019-09-25 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001205192 SCV001376433 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-09-07 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 907 of the WDR19 protein (p.Ala907Val). This variant is present in population databases (rs201967816, gnomAD 0.02%). This missense change has been observed in individual(s) with craniosynostosis (PMID: 31837199). ClinVar contains an entry for this variant (Variation ID: 691914). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002478948 SCV002779712 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693416 SCV005190072 uncertain significance not provided criteria provided, single submitter not provided

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