Submissions for variant NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)

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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	RCV002976061	SCV003287428	uncertain significance	Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly	2022-02-05	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 862 of the WDR35 protein (p.Ile862Val). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with WDR35-related conditions. This variant is present in population databases (rs762569821, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual.
Fulgent Genetics, Fulgent Genetics	RCV002976061	SCV005654904	uncertain significance	Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly	2024-06-01	criteria provided, single submitter	clinical testing

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