ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.313_314del (p.Val105fs)

dbSNP: rs1404477615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674994 SCV000800417 pathogenic Cockayne syndrome type 1 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV002531367 SCV003525826 pathogenic not provided 2022-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558687). This sequence change creates a premature translational stop signal (p.Val105Thrfs*6) in the ERCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC8 are known to be pathogenic (PMID: 29572252). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 16865293). This variant is also known as T104fsdelTG.

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