ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser)

gnomAD frequency: 0.00002  dbSNP: rs759962943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770598 SCV001993828 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29641532)
Fulgent Genetics, Fulgent Genetics RCV002477939 SCV002784143 uncertain significance Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2021-08-24 criteria provided, single submitter clinical testing
Invitae RCV001770598 SCV004653595 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1305806). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with ERCC5-related conditions. This variant is present in population databases (rs759962943, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 347 of the ERCC5 protein (p.Ala347Ser).

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