ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)

dbSNP: rs121913021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV001799560 SCV002043743 likely pathogenic Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2021-06-15 criteria provided, single submitter clinical testing The c.1972C>G variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is also not present in Indian Exome Database and in our in-house exome database. UniProt classifies this variant as Pathogenic, associated with photosensitive trichothiodystrophy-1 (ID: VAR_017290). The variant was earlier identified in patients affected with xeroderma pigmentosum complementation group D and photosensitive trichothiodystrophy-1 (PMID- 7920640, 8571952, 9195225, 9238033, 9758621, 11242112). Alternative variants in the same amino acid position were reported to HGMD (IDs: CM013903, CM960514), ClinVar (Accession: VCV000016785.1) and OMIM (ID: 126340.0007) databases. In-silico pathogenicity prediction programs like SIFT, Polyphen-2, MutationTaster2, CADD, Varsome, InterVar etc. predicted this variant to be likely deleterious.

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