ClinVar Miner

Submissions for variant NM_001277058.2(ERCC6):c.2758A>G (p.Met920Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004790008 SCV005399186 uncertain significance Cockayne syndrome type 2 2020-05-25 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_001277058.1(ERCC6):c.2758A>G in exon 6 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 methionine to a valine at position 920 of the protein; NP_001263987.1ERCC6):p.(Met920Val). The methionine at this position has low conservation (100 vertebrates, UCSC), and is located within the Transposase IS4 domain (NCBI). In silico software predicts this variant to be tolerated (PolyPhen2, PROVEAN, FATHMM, Mutation Assessor). The variant is present in the gnomAD population database at a frequency of 0.001% (3 heterozygotes, 0 homozygotes). 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 with LOW CLINICAL RELEVANCE.
Ambry Genetics RCV004837960 SCV005471173 uncertain significance not specified 2024-12-09 criteria provided, single submitter clinical testing The c.1354A>G (p.M452V) alteration is located in exon 2 (coding exon 1) of the PGBD3 gene. This alteration results from a A to G substitution at nucleotide position 1354, causing the methionine (M) at amino acid position 452 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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