ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) (rs149364215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067959 SCV001233044 likely pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-06-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 689 of the ERCC4 protein (p.Arg689Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs149364215, ExAC 0.003%). This variant has been observed in an individual affected with Fanconi anemia (PMID: 23623386). In this individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 55824). This variant has been reported to affect ERCC4 protein function (PMID: 23623386, 30165384, 28292785, 30658521). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000049245 SCV000077498 pathogenic Fanconi anemia, complementation group Q 2013-05-02 no assertion criteria provided literature only

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