ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.694A>G (p.Thr232Ala)

gnomAD frequency: 0.00006  dbSNP: rs201383161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002047440 SCV002117320 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 232 of the ERCC3 protein (p.Thr232Ala). This variant is present in population databases (rs201383161, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ERCC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1352226). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Sema4, Sema4 RCV002258316 SCV002532640 uncertain significance Xeroderma pigmentosum 2021-09-23 criteria provided, single submitter curation
Ambry Genetics RCV002545720 SCV003687316 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.694A>G (p.T232A) alteration is located in exon 6 (coding exon 6) of the ERCC3 gene. This alteration results from a A to G substitution at nucleotide position 694, causing the threonine (T) at amino acid position 232 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002047440 SCV003929676 uncertain significance not provided 2022-12-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with lung cancer (Matakidou et al., 2006); This variant is associated with the following publications: (PMID: 34426522, 25910212, 25795128, 16550608)

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