ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.156G>A (p.Leu52=)

gnomAD frequency: 0.00011  dbSNP: rs202156896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931392 SCV001077058 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001136194 SCV001296018 uncertain significance Xeroderma pigmentosum, group D 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 RCV002258050 SCV002531560 likely benign Xeroderma pigmentosum 2021-12-17 criteria provided, single submitter curation
Ambry Genetics RCV002400043 SCV002708806 likely benign Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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