ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1638G>T (p.Leu546Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004790015 SCV005399213 uncertain significance Cockayne syndrome type 2 2020-05-21 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_000124.2(ERCC6):c.1638G>T in exon 7 of the ERCC6 gene. (NB: this variant is non-coding in alternative transcripts). This substitution is predicted to create a minor amino acid change from a leucine to a phenylalanine at position 546 of the protein; NP_000115.1(ERCC6):p.(Leu546Phe). The leucine at this position has very high conservation (100 vertebrates, UCSC), and is located within the helicase ATP-binding domain (Sanchez-Roman, I. et al. (2018)). In silico software predicts this variant to be damaging (PolyPhen2, PROVEAN, MutationAssessor, FATHMM). The variant is not present in the gnomAD population database. This variant has not previously been reported in clinical cases. Based on information available at the time of curation, this variant has been classified as a VUS. Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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