ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg)

gnomAD frequency: 0.00042  dbSNP: rs200807189
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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 RCV001352305 SCV001546851 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 378 of the ERCC6L2 protein (p.Trp378Arg). This variant is present in population databases (rs200807189, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ERCC6L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047574). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genetic Services Laboratory, University of Chicago RCV001820049 SCV002066731 uncertain significance not specified 2021-11-22 criteria provided, single submitter clinical testing DNA sequence analysis of the ERCC6L2 gene demonstrated a sequence change, c.1132T>C, in exon 6 that results in an amino acid change, p.Trp378Arg. This sequence change has been described in the gnomAD database with a frequency of 0.024% in the Latino/admixed American subpopulation (dbSNP rs200807189). The p.Trp378Arg change affects a poorly conserved amino acid residue located in a domain of the ERCC6L2 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Trp378Arg substitution. This sequence change does not appear to have been previously described in individuals with ERCC6L2-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Trp378Arg change remains unknown at this time.
Fulgent Genetics, Fulgent Genetics RCV002504566 SCV002803830 uncertain significance Pancytopenia-developmental delay syndrome 2022-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547552 SCV003741476 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.1132T>C (p.W378R) alteration is located in exon 6 (coding exon 6) of the ERCC6L2 gene. This alteration results from a T to C substitution at nucleotide position 1132, causing the tryptophan (W) at amino acid position 378 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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