Submissions for variant NM_006904.6(PRKDC):c.3368C>T (p.Thr1123Ile) (rs1563792638)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000699941	SCV000828674	uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	2019-12-27	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with isoleucine at codon 1123 of the PRKDC protein (p.Thr1123Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKDC-related disease. 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: "Deleterious"; PolyPhen-2: "Not Available"; 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.

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