ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.798C>G (p.Ile266Met) (rs746106147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807809 SCV000947883 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2020-11-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 266 of the ERCC4 protein (p.Ile266Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs746106147, ExAC 0.09%). This variant has not been reported in the literature in individuals with ERCC4-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: 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.
Baylor Genetics RCV001294110 SCV001482923 uncertain significance Fanconi anemia, complementation group Q 2020-07-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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