ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys)

gnomAD frequency: 0.00037  dbSNP: rs2307491
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001113804 SCV001271598 uncertain significance Xeroderma pigmentosum, group G 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Sema4, Sema4 RCV002255621 SCV002534899 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-23 criteria provided, single submitter curation
GeneDx RCV002464390 SCV002758915 uncertain significance not provided 2022-06-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 16111488)
Ambry Genetics RCV002556223 SCV003529415 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.932C>G (p.S311C) alteration is located in exon 8 (coding exon 8) of the ERCC5 gene. This alteration results from a C to G substitution at nucleotide position 932, causing the serine (S) at amino acid position 311 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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