ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp)

gnomAD frequency: 0.00002  dbSNP: rs137877463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001110572 SCV001268022 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.
Ambry Genetics RCV002555074 SCV003716928 uncertain significance Inborn genetic diseases 2021-07-30 criteria provided, single submitter clinical testing The c.1498C>T (p.R500W) alteration is located in exon 8 (coding exon 8) of the ERCC5 gene. This alteration results from a C to T substitution at nucleotide position 1498, causing the arginine (R) at amino acid position 500 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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