Submissions for variant NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003098882	SCV003482240	uncertain significance	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2022-07-04	criteria provided, single submitter	clinical testing	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. 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"). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs762413629, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 897 of the WDR19 protein (p.Ile897Met).
Fulgent Genetics, Fulgent Genetics	RCV005034684	SCV005665229	uncertain significance	Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72	2024-05-28	criteria provided, single submitter	clinical testing

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