ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.580_584+1del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042569 SCV001206257 likely pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2020-05-20 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 (c.580_584+1del) of the ERCC4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual with clinical features of xeroderma pigmentosum-F (PMID: 28431612). ClinVar contains an entry for this variant (Variation ID: 840550). Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531225 SCV001746241 likely pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing

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