ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser)

gnomAD frequency: 0.00007  dbSNP: rs781374501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337073 SCV001530638 uncertain significance Pancytopenia-developmental delay syndrome 2018-08-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865859 SCV002196249 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 602 of the ERCC6L2 protein (p.Asn602Ser). This variant is present in population databases (rs781374501, 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: 1034368). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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 RCV003169578 SCV003896098 uncertain significance Inborn genetic diseases 2023-02-10 criteria provided, single submitter clinical testing The c.1805A>G (p.N602S) alteration is located in exon 12 (coding exon 12) of the ERCC6L2 gene. This alteration results from a A to G substitution at nucleotide position 1805, causing the asparagine (N) at amino acid position 602 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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