ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) (rs116373975)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170369 SCV000222784 uncertain significance not specified 2013-07-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723972 SCV000232006 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515209 SCV000611387 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B; Lung cancer; UV-sensitive syndrome; Age-related macular degeneration 5; Premature ovarian failure 11 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000723972 SCV000570524 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing The K553N variant in the ERCC6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K553N variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K553N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to lysine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K553N as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000274383 SCV000362919 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329433 SCV000362920 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384088 SCV000362921 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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