ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter)

gnomAD frequency: 0.00001  dbSNP: rs999171980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035922 SCV001199262 pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys255*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 835111). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002551343 SCV003589347 pathogenic Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.763A>T (p.K255*) alteration, located in exon 5 (coding exon 4) of the ERCC6 gene, consists of an A to T substitution at nucleotide position 763. This changes the amino acid from a lysine (K) to a stop codon at amino acid position 255. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047218 SCV005681646 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 2024-02-17 criteria provided, single submitter clinical testing

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