ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2077T>A (p.Phe693Ile)

gnomAD frequency: 0.00006  dbSNP: rs199921831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882242 SCV002166358 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 693 of the ERCC6 protein (p.Phe693Ile). This variant is present in population databases (rs199921831, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1392680). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ERCC6 protein function. 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.
Ambry Genetics RCV002553633 SCV003740512 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.2077T>A (p.F693I) alteration is located in exon 10 (coding exon 9) of the ERCC6 gene. This alteration results from a T to A substitution at nucleotide position 2077, causing the phenylalanine (F) at amino acid position 693 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Leipzig Medical Center RCV004762220 SCV005368219 uncertain significance Cockayne syndrome type 2 2024-07-23 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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